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PubMed2005

Genetic and developmental influences on infant mouse ultrasonic calling. III. Patterns of inheritance in the calls of mice 3-9 days of age.

Infant mice produce ultrasonic calls that may elicit retrieval by adult mice. Age-related differences and genetic effects, such as additivity and directional dominance, have been found for most call characteristics at 3 days of age. Significant maternal effects have been reported for calling rate. However, little is known about how the influence of these genetic effects changes with age. This study explored developmental-genetic patterns of inheritance of seven ultrasonic call characteristics at ages 3-9 days, from groups of mice derived from a complete 4 x 4 diallel cross. The results indicate that additive variance contributes significantly to all characteristics for all ages. Maternal effects have a small effect on call characteristics. Dominance effects decrease with age for rate, range, and length of calls, suggesting less selective pressure toward higher rates, greater range, and longer calls as pups become more competent thermoregulators.

Aging↗

PubMed2005

Familial bullous lichen planus (FBLP): Pedigree analysis and clinical characteristics.

BACKGROUND: Familial bullous lichen planus (FBLP) is a rare condition. The clinical features dearly have been described. OBJECTIVE: We report the largest patient series of FBLP and describe its clinical characteristics and inheritance pattern. METHODS: In this retrospective chart review, we analyzed nine consecutive familial pedigrees of FBLP with 36 affected individuals who presented to the Department of Dermatology at the Wuhan Union Hospital, a tertiary referral hospital in central China. Parameters analyzed include age of onset, gender predilection, lesional distribution, nail and mucosal involvement, clinical course, and inheritance pattern. RESULTS: Thirty-six of 85 individuals in the nine families were affected (42.4%). Females were more likely to be affected than males (58.3% vs 35.7%, G(chi 2 = 3.99. P < 0.05). A bimodal disease onset was found, with one peak at 1-3 years and another at 13-17 years. The shin is the most commonly affected area (97%) followed by the upper limbs and the thighs. Involvement of the torso is relatively rare. Only a minority of cases involves the oral mucosa. The disease tends to follow a chronic and progressive course. The inheritance pattern is autosomal dominant with variable penetrance. CONCLUSION: Familial bullous lichen planus is a chronic, progressive bullous eruption of the lower and upper extremities. Compared with non familial bullous lichen planus, it has an earlier onset and wider disease distribution. It may be inherited as an autosomal dominant condition with variable penetrance.

Adolescent↗

PubMed2002

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

BACKGROUND: Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. SCCMS mutations within the AChR subunit are located in various functional domains, whereas fully described mutations in AChR non- subunits have, thus far, been located only in the M2 channel-lining domain. The authors identified and characterized two -subunit mutations, located outside M2, that underlie SCCMS in three kinships. In two of the three kinships, the syndrome showed an atypical inheritance pattern. METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. RESULTS: The authors identified two SCCMS mutations in the AChR subunit, L78P and L221F. Both mutations prolonged ACh-induced ion channel activations. L78P is present in a consanguineous family and appears to be pathogenic only when present on both alleles, and L221F shows variable penetrance in one of the two families that were identified harboring this mutation. CONCLUSION: SCCMS mutations may show a recessive inheritance pattern and variable penetrance. A diagnosis of SCCMS should not be ruled out in cases of CMS with an apparent recessive inheritance pattern.

Adolescent↗

PubMed2003

Segregation analysis of mandibular prognathism in Libya.

The etiology of mandibular prognathism has been attributed to various genetic inheritance patterns and some environmental factors. The variation in inheritance patterns can be partly due to the use of different statistical approaches in the respective studies. The objective of this study was to investigate the role of genetic influences in the etiology of this trait. We performed segregation analysis on 37 families of patients currently being treated for mandibular prognathism. Mandibular prognathism was treated as a qualitative trait, with cephalometric radiographs, dental models, and photographs used to verify diagnosis. Segregation analysis of a prognathic mandible in the entire dataset supported a transmissible Mendelian major effect, with a dominant mode of inheritance determined to be the most parsimonious.

Adult↗

PubMed1994

Genetic factors in the etiology of idiopathic Parkinson's disease.

Overshadowed by a vigorous search for an environmentally-derived toxin that would be possibly relevant for the pathogenesis of idiopathic Parkinson's disease (PD), genetic factors have largely been neglected for this condition during the last two decades. Recent descriptions of kindreds over three or more generations with several family members affected have renewed the interest in genetics of PD. Concurring with this, diagnostic concepts and pathologic criteria for PD and for idiopathic Lewy-body (LB) disease have been reevaluated such that LB-proven parkinsonism is sufficiently differentiated from familial parkinsonism without LB pathology. Surveys on genetic epidemiology in PD have confirmed the 19th century's notion that 10 to 15% of PD index cases report a further family member with PD. These figures were, however, substantiated on a statistical basis only in single surveys when comparisons were made with the numbers of PD relatives in control index cases. Twin studies did not reveal a higher rate of concordance within monozygotic pairs than in dizygotic pairs. Tests of striatal 18-F-Dopa uptake in clinically unaffected mono- and dizygotic co-twins did not alter the ratio between the concordance rates. Though not excluded by the twin studies, multifactorial (or polygenic) inheritance as well as mitochondrial inheritance are at present less likely to cover most of the inheritance pattern in familial LB parkinsonism. Instead, autosomal dominant inheritance with reduced penetrance is the most probable inheritance pattern for most of the reported pedigrees. Molecular genetic investigations have to consider the biochemical basis of the age- and region-specific pathology of PD. The first analyses of linkage and allelic associations gave inconclusive results in sporadic and familial PD. The hunt for metabolic factors that link geno- and phenotype expression in PD will continue.

Adolescent↗

PubMed1986

Atrichia with papular lesions.

We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. There were identical findings in the patient's father. This rare variant of ectodermal dysplasia typically presents with shedding of normal fetal hair within the first three months. Eyelashes are typically spared. Numerous keratin-filled follicular cysts develop over extensive areas of the skin, usually between the age of 2 and 26 years. These lesions are most numerous on the face, neck, scalp, and extremities. Teeth and nails are entirely normal in these patients. The mode of inheritance of atrichia with papular lesions is uncertain. Our case suggests an autosomal-dominant inheritance pattern, while previous reports have shown autosomal recessive inheritance pattern.

Alopecia↗

PubMed1991

The role of dominance and epistasis in the genetic control of blood pressure in rodent models of hypertension.

Genetic analyses of crosses between hypertensive rodent models and their normotensive controls were performed on 43 sets of data published between 1970-1989. In each case, the cross involved F1, F2, and both backcross generations for a "complete genetic cross." Biometrical analysis estimated genetic parameters and their standard errors associated with dominance and epistasis (interaction of alleles that are not at the same locus). The statistical significance of these parameters was determined by comparing the parameter to its standard error. A purely additive inheritance pattern was seldom found. Additive/dominance inheritance was apparent in only two models. The prevailing pattern of inheritance was one with partial dominance for alleles for normal blood pressures and epistatic interactions. Finding epistasis in so many models will have implications for the application of cosegregation and linkage analyses in hypertension research.

Animals↗

PubMed2002

Birth defects, season of conception, and sex of children born to pesticide applicators living in the Red River Valley of Minnesota, USA.

We previously demonstrated that the frequency of birth defects among children of residents of the Red River Valley (RRV), Minnesota, USA, was significantly higher than in other major agricultural regions of the state during the years 1989-1991, with children born to male pesticide applicators having the highest risk. The present, smaller cross-sectional study of 695 families and 1,532 children, conducted during 1997-1998, provides a more detailed examination of reproductive health outcomes in farm families ascertained from parent-reported birth defects. In the present study, in the first year of life, the birth defect rate was 31.3 births per 1,000, with 83% of the total reported birth defects confirmed by medical records. Inclusion of children identified with birth or developmental disorders within the first 3 years of life and later led to a rate of 47.0 per 1,000 (72 children from 1,532 live births). Conceptions in spring resulted in significantly more children with birth defects than found in any other season (7.6 vs. 3.7%). Twelve families had more than one child with a birth defect (n = 28 children). Forty-two percent of the children from families with recurrent birth defects were conceived in spring, a significantly higher rate than that for any other season. Three families in the kinships defined contributed a first-degree relative other than a sibling with the same or similar birth defect, consistent with a Mendelian inheritance pattern. The remaining nine families did not follow a Mendelian inheritance pattern. The sex ratio of children with birth defects born to applicator families shows a male predominance (1.75 to 1) across specific pesticide class use and exposure categories exclusive of fungicides. In the fungicide exposure category, normal female births significantly exceed male births (1.25 to 1). Similarly, the proportion of male to female children with birth defects is significantly lower (0.57 to 1; p = 0.02). Adverse neurologic and neurobehavioral developmental effects clustered among the children born to applicators of the fumigant phosphine (odds ratio [OR] = 2.48; confidence interval [CI], 1.2-5.1). Use of the herbicide glyphosate yielded an OR of 3.6 (CI, 1.3-9.6) in the neurobehavioral category. Finally, these studies point out that (a) herbicides applied in the spring may be a factor in the birth defects observed and (b) fungicides can be a significant factor in the determination of sex of the children of the families of the RRV. Thus, two distinct classes of pesticides seem to have adverse effects on different reproductive outcomes. Biologically based confirmatory studies are needed.

Adult↗

PubMed1975

Investigation of the prevalence and inheritance of bronchial asthma in San Antonio de los Baños, Cuba.

A survey of bronchial asthma prevalence and inheritance patterns was carried out in the municipality of San Antonio de los Banõs, La Habana, Cuba, employing as a sample 3,295 of the area's inhabitants. These persons, selected by stratified, non-restricted sampling techniques, represented 11.02 per cent of the total population. The asthma prevalence found in this sample, which was considered representative of the local population, was 9.74 percent. No significant variations were noted in male and female prevalence rates. The occurrence of bronchial asthma is strongly influenced by inheritance. Our survey supported this view, and also showed that the age of asthma onset is influenced by whether or not the subject's family has a positive history of allergy or not. However, patients with a positive history on one side of their family had an age of onset that was not significantly different from patients with a positive history on both sides (p less than 0.35). Overall, the results tend to confirm that the inheritance of bronchial asthma is autosomal and does not conform to simple dominant or recessive inheritance patterns. Rather, asthma inheritance appears multifactorial, perhaps involving varying degrees of expression, indicating that more is involved than absence or deficiency of a single enzyme.

Adolescent↗

PubMed1993

Mendelian inheritance in man: diagnoses in the UMLS.

Because they deal with many distinct but rare inheritance diseases, geneticists have difficulty translating from their codes to other biomedical coding schemes. The objective of this research was to investigate the potential uses and difficulties of using the UMLS Metathesaurus for genetic diagnoses and to make recommendations to UMLS developers for improvements in UMLS for common genetic disorders. The 110 most common Mendelian Inheritance in Man disorders from the Missouri Genetic Disease Program over the period of one year were translated into MeSH, ICD and SNOMED. The more common diseases are more likely to be mapped than the rarer ones. Diseases with a proven genetic inheritance pattern are more likely to be mapped than those with speculated inheritance patterns. Approximately one third of all diagnoses were not mapped across all three coding schemes in Meta-1.2. The ICD coding scheme was found to be too broad to be meaningful for genetic diagnosis or epidemiological purposes. MeSH and SNOMED need to be made more specific and complete, and all of the new version of SNOMED needs to be included in the Metathesaurus.

Abstracting and Indexing↗

PubMed2005

Proposed multigenic Composite Inheritance in major depression.

Various rationale have been considered in the familial inheritance pattern of major depression ranging from simple one-gene Mendelian inheritance to pseudo-additive gene action. We instead predict broad genetic expressivity patterns in the progeny of parents where at least one parent has recurrent major depression. In keeping with this idea, we feel that recurrent major depression could involve an expression imbalance of "normal" genes either exclusively or along with allelic variation(s). The patterns of pathology are theoretically conceptualized as qualitative and quantitative, meaning that expressivity of the genetic pattern in these children may range from minimal to complete even among siblings. Thus, prediction of the particular genetic pattern expressed by a particular child might prove difficult. The complex inheritance pattern that we propose is referred to as Composite Inheritance. Composite Inheritance considers that both the up- and down-regulation of luxury genes and housekeeping genes are involved in this dichotomous qualitative inheritance pattern and also the wide quantitative expressivity. The luxury genes include such genes as those coding for the neurotransmitter transporters and receptors. The housekeeping genes found to date include those that code for proteins involved in gene transcription, secondary signaling systems, fatty acid metabolism and transport, and intracellular calcium homeostasis. Other luxury and housekeeping genes no doubt remain to be discovered. Our current research utilizes an empirical approach involving advanced genomics and specialized pattern recognition mathematics in families having at least one parent with recurrent major depression. The goal of our research is to develop a pattern recognition system of genetic expressivity in major depression to which prevention and early intervention may be tailored.

Alleles↗

PubMed2004

Genetics and Parkinson's disease.

Idiopathic Parkinson's disease is a neurodegenerative disorder that affects 1-2% of the population over the age of 65 years. Its aetiology is most likely a combination of complex genetic and environmental factors. Although Mendelian inheritance is seen in less than 5% of cases, recent studies have identified three genes mutations causing Parkinson's disease with a Mendelian inheritance pattern: autosomal dominantly inherited mutations of the alpha-synuclein gene on chromosome 4q21-q23, autosomal recessively inherited mutations of the parkin gene on chromosome 6q25.2-q27 and an autosomal dominantly inherited mutation of the Ubiquitin C-terminal hydrolase L1 (UCH-L1) gene on chromosome 4p14-15.1. A number of other candidate gene polymorphisms including cytochrome P450 2D6, N-acetyltransferase 2, monoamine oxidase-B and glutathione-s-transferase M1 are implicated in sporadic and familial cases and may also play a minor role in the aetiology of Parkinson's disease.

Genetics↗

PubMed1998

Successful preimplantation genetic diagnosis is related to the number of available cumulus-oocyte complexes.

The inheritance pattern of monogenic inheritable disorders influences the proportion of unaffected embryos after preimplantation genetic diagnosis (PGD). We aimed to investigate the influence of the number of cumulus-oocyte complexes (COC) on the outcome after PGD. Eighty-four cycles of 47 couples were included in our analysis. All couples were at risk of transmitting autosomal recessive, autosomal dominant, X-linked single gene disorders or sexaneuploidies to their offspring. One PGD cycle was carried out for a Yq-deletion of the man. The correlation between the numbers of COC and biopsied embryos and between the numbers of COC and unaffected embryos was highly significant (P <0.05). A pregnancy occurred in 15 cycles and a minimum of six COC were needed to achieve a pregnancy. Thirteen pregnancies were observed in cycles with at least 9 COC. The transfer rate and number of transferred embryos per cycle in the subgroups with <9 COC and > or =9 COC were significantly higher in the latter. Although pregnancy rates did not differ significantly between the two subgroups (probably due to the low number of pregnancies), our data indicate that it is justifiable to cancel PGD cycles in which it is expected that <6 COC will be retrieved and that the couple should be informed about the poor prognosis if <9 COC are retrieved.

Cystic Fibrosis↗

PubMed1985

Tomaculous neuropathy: hereditary predisposition to pressure palsies.

A family is described in which six members in three generations have been affected by a remittent and pressure-sensitive mononeuritis or mononeuritis multiplex. In addition, nerve conduction studies have demonstrated the presence of peripheral neuropathy in clinically unaffected as well as affected family members, thus providing evidence of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of the clinically affected members of this family showed 'sausage-shaped' swellings of myelin sheaths characteristic of tomaculous neuropathy. This rare condition, which is briefly reviewed, appears to be a distinctive clinicopathological entity and usually follows a benign course.

Adolescent↗

PubMed2005

Major genes affecting ovulation rate in sheep.

Research conducted since 1980 in relation to inheritance patterns and DNA testing of major genes for prolificacy has shown that major genes have the potential to significantly increase the reproductive performance of sheep flocks throughout the world. Mutations that increase ovulation rate have been discovered in the BMPR-1B, BMP15 and GDF9 genes, and others are known to exist from the expressed inheritance patterns although the mutations have not yet been located. In the case of BMP15, four different mutations have been discovered but each produces the same phenotype. The modes of inheritance of the different prolificacy genes include autosomal dominant genes with additive effects on ovulation rate (BMPR-1B; Lacaune), autosomal over-dominant genes with infertility in homozygous females (GDF9), X-linked over-dominant genes with infertility in homozygous females (BMP15), and X-linked maternally imprinted genes (FecX2). The size of the effect of one copy of a mutation on ovulation rate ranges from an extra 0.4 ovulations per oestrus for the FecX2 mutation to an extra 1.5 ovulations per oestrus for the BMPR-1B mutation. A commercial DNA testing service enables some of these mutations to be used in genetic improvement programmes based on marker assisted selection.

Animals↗

PubMed2025

Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family.

Fatal familial insomnia (FFI) is a rare, autosomal dominant prion disease caused by a mutation in the PRNP gene, leading to the misfolding of the cellular prion protein (PrPC) into its pathogenic form (PrPSc). This results in neurodegeneration, particularly in the thalamus, a key region regulating sleep-wake cycles, which underlies the hallmark symptoms of FFI, including insomnia, autonomic dysfunctions, motor disturbances and cognitive decline. This study focuses on a Portuguese family with FFI, providing a detailed pedigree analysis spanning five generations and comprising 134 individuals, to elucidate inheritance patterns, disease onset, and clinical progression. The findings confirm the autosomal-dominant inheritance pattern and a strong familial clustering of the disease with age of onset in the late 50s (mean 57 years). Although 67% of affected individuals succumbing to the disease within months to 1.5 years, a notably 33% exhibited prolonged survival beyond the typical disease duration, exceeding proportions reported in the literature. Family members retrospectively reported prodromal symptoms, including generalized pain, headaches, tinnitus, pruritus, and behavioral changes, occurring up to five years before diagnosis. In several cases, reportedly, disease onset was associated with major phycological stressors (e.g., emotional stress or mourning). While the significance of these observations remains uncertain, they may provide insights into potential early features in this kindred. Further research integrating genomic sequencing, biomarkers, and longitudinal clinical assessments are needed to better understand the mechanisms underlying the heterogeneity of FFI and to explore potential therapeutic interventions.

Humans↗

PubMed2001

Results of ophthalmologic screening examinations of German Pinschers in Finland--a retrospective study.

OBJECTIVE: To retrospectively review ophthalmologic findings in German Pinschers in Finland. ANIMALS STUDIED: One hundred and twenty-two German Pinschers that had ophthalmologic examination performed according to the Finnish Kennel Club's Eye Scheme before June 15, 1999. PROCEDURES: A total of 154 eye examination reports of 122 dogs were analysed and all described findings were reported. RESULTS: Persistent hyperplastic tunica vasculosa lentis (PHTVL) was diagnosed in 8.4% of all cases, and hereditary cataract (HC) in 6.5%. Even higher numbers of similar changes were reported by ophthalmologists; some of the dogs, however, were officially diagnosed as "free of symptoms" of inherited ocular diseases. A relatively high number (4.5%) of dogs had reported changes in Y sutures. A pedigree analysis suggests recessive inheritance for both diseases. Because of missing information about many dogs in the pedigree, an autosomal incomplete inheritance pattern cannot be ruled out in either case. CONCLUSIONS: Both HC and PHTVL are inherited diseases in German Pinschers. Further studies are needed to determine the importance of the changes found in Y sutures. Discrepancies between the official diagnosis and described changes are probably partially due to the lack of familiarity with the published literature concerning this breed. Further studies are needed to ascertain the inheritance pattern for both diseases. So far breeding with affected animals should be avoided.

Animals↗

PubMed2002

A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.

Mutations of connexin alpha 8 (GJA8 or Cx50) and connexin alpha 3 (GJA3 or Cx46) in humans have been reported to cause cataracts with semi-dominant inheritance patterns. Targeted null mutations in Gja8 and Gja3 in mice cause cataracts with recessive inheritance. The molecular bases for these differences in inheritance patterns and the mechanism for cataractogenesis in these mutants are poorly understood. We recently mapped an autosomal semi-dominant cataract [lens opacity 10 (Lop10)] mutation to mouse chromosome 3 and identified a missense mutation (G-->C) in the Gja8 gene, which causes glycine at codon 22 to be replaced with arginine (G22R). Moreover, we demonstrated that the alpha 8 G22R isoform is a loss-of-function mutant for alpha 8, as well as a dominant mutation for reducing the phosphorylated forms of alpha 3 connexin in vivo. To test the hypothesis that the alteration of endogenous alpha 3 connexin in Lop10 mice led to a unique lens phenotype, we generated double mutant offspring between Lop10 and the Gja3(tm1) (alpha 3(-/-)) mice. The double homozygous mutant mice (Lop10/Lop10 alpha 3(-/-)) showed relatively normal lens cortical fibers compared to the Lop10 mice. A functional impairment of endogenous alpha 3 connexin is therefore partly responsible for cellular phenotypes in the Lop10 mice. This study has provided some novel molecular insights into mouse and human cataractogenesis caused by alpha 8 and alpha 3 mutations. These mouse models will be useful for investigating the mechanistic relationship between gap junction impairment and cataract formation.

Amino Acid Substitution↗