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PubMed2004

Abomasal emptying defect of sheep may be an acquired form of dysautonomia.

Abomasal emptying defect (AED) is a disease syndrome that primarily affects Suffolk sheep and is characterized by distension and impaction of the abomasum. No histologic lesion has been consistently associated with this condition. There is no known etiology. In this study, nine cases of AED were identified by necropsy, including three rams and six ewes between 2 and 6 years of age. Four of the cases occurred sporadically, and five ewes were submitted on the same day from a single flock. Histologic examination of celiacomesenteric ganglia from six of the affected sheep revealed scattered chromatolytic or necrotic neurons, without inflammation. Chromatolytic neurons were observed more frequently in AED-affected sheep than in seven healthy Suffolk sheep (P < 0.08, weak statistical support). Neuronal necrosis was not observed in any of the healthy sheep. Lineage records of the flock that suffered an outbreak were incompatible with the possibility of a simple inheritance pattern for this disease; furthermore, the very occurrence of AED in outbreak form is inconsistent with transmission solely by inheritance. Only one of the six tested sheep showed concurrent immunohistochemical evidence of scrapie. The lesion pattern in celiacomesenteric ganglia is suggestive of a neurotoxicosis. Neuronal lesions of AED resemble dysautonomic diseases of humans and other animals.

Abomasum↗
PubMed1980

A study of a myopathy presenting as idiopathic scoliosis. Multicore disease or mitochondrial myopathy?

Seven cases from a family with a myopathy categorized as "multicore disease" are presented. The clinical picture is unusual because of the predominant progressive involvement of the axial skeletal muscle, with scoliosis and disproportionate respiratory failure as the major clinical features. The propositus and his cousin have both suffered from scoliosis without limb weakness. There is a possibility that this myopathy may be responsible for some cases regarded as idiopathic scoliosis, especially idiopathic infantile scoliosis. The clinical picture is highly variable, and there are sub-clinical cases. The inheritance pattern is consistent with either autosomal dominant, sex-linked recessive or extra-chromosomally inherited disease. Electron microscopy revealed mitochondrial abnormalities, which may have resulted in the Z-disc pathology.

Adolescent↗
PubMed2002

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Ichthyosis vulgaris (IV) is a mild to severe scaling disorder of uncertain etiology estimated to affect as many as 1 : 250 in the population. Family studies have shown that in many cases IV follows an autosomal dominant inheritance pattern, but gene mapping studies have not been reported. To investigate the genetic basis for inherited IV, we have performed gene linkage studies in two multigenerational families where affected individuals have clinical features of IV but distinct histological features. The epidermis in this disorder characteristically displays non-specific orthohyperkeratosis. Notably, a subset of IV patients with a reduced or absent granular epidermal layer (AGL) have been reported, and decreased filaggrin levels have been described in others. The prominent role of profilaggrin in human keratohyalin suggests that defects in the gene for profilaggrin (FLG), its processing of profillagrin to filaggrin, or a gene involved in profilaggrin regulation may underlie or modify the pathology in IV. Family 1 had seven individuals with IV, severe heat intolerance and epidermis with 1-3 granular layers (consistent with normal epidermal histology). Ichthyosis vulgaris in this family did not segregate with FLG or other genes in the epidermal differentiation complex. In contrast, five of the six IV patients in Family 2, all siblings, had epidermis with no granular layer. Significant evidence was obtained for linkage of IV with the associated AGL phenotype to the epidermal differentiation complex (which includes FLG) assuming either a recessive (max Lod 3.4) or dominant (max Lod 3.6) inheritance model. Sequence analysis of FLG did not reveal a mutation in the amino or carboxyl terminal portions of the coding sequence adjacent to filaggrin repeats. The AGL may represent an endophenotype for IV, and the presence of a modifier of IV pathology at this locus is discussed.

Adult↗
PubMed1994

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

In spite of recent advances in identifying genes causing monogenic human disease, very little is known about the genes involved in polygenic disease. Three families were identified with mutations in the unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa (RP). These findings indicate that the allelic and nonallelic heterogeneity known to be a feature of monogenic RP is complicated further by interactions between unlinked mutations causing digenic RP. Recognition of the inheritance pattern exemplified by these three families might facilitate the identification of other examples of digenic inheritance in human disease.

Alleles↗
PubMed1983

A family study of vitiligo patterns.

The anatomical distribution of vitiligo has been studied in families with evidence of organ-specific autoimmune disease. No examples of similar pattern inheritance were found in first degree relatives in contrast to published reports of similar vitiligo patterns in identical twins. The genetic predisposition to develop vitiligo apparently allows for a diversity of anatomical pattern. A similar mechanism may be responsible for the occurrence of different organ-specific autoimmune diseases in members of the same family.

Adolescent↗
PubMed2000

A study of the inheritance of a bleeding disorder in Simmental cattle.

A study was designed to determine the inheritance pattern of a blood platelet aggregation disorder in Simmental cattle utilizing embryo transfer technology. A Simmental donor cow that had previously produced a calf with the platelet aggregation disorder was superovulated and mated to a bull that had also produced affected offspring. Twenty-seven calves were produced from the 63 (42.9%) embryos transferred. This somewhat lower than expected pregnancy rate is suggestive of an increased rate of embryo loss. Twenty-three of 25 (92%) calves had normal platelet aggregation patterns and 2 failed to show any evidence of platelet aggregation. Data are suggestive that inheritance is not simple Mendelian recessive. A more likely scenario is that the defect is the result of the inheritance of at least 2 genes, which is also consistent with the sporadic incidence reported in the population at large.

Animals↗
PubMed1995

Genetic control of biological rhythms: independent expression of each rhythm parameter.

Biological rhythm whose pattern approaches a sinusoidal curve can be characterized by four parameters: Period, Mesor, Acrophase and Amplitude. Inheritance patterns of these parameters were assessed by monitoring White Blood Cell (WBC) count rhythms of C57BL/6J mice, BALB/c mice and the F1 progeny prior and after injection of Cisplatinum at either 0900, 1500, 2100, or 0300. All untreated mice exhibited similar WBC rhythms while a variety of rhythm phenotypes was revealed among the injected mice. Analyses of the variety in the parental strains and F1 progeny suggested that each of the rhythm parameters is independently controlled.

Analysis of Variance↗
PubMed1989

Inheritance of spatial learning ability in inbred mice: a classical genetic analysis.

The inheritance of spatial learning ability in inbred mice was examined by performance of a classical genetic cross between the 2 inbred strains C57BL/6Ibg and DBA/2Ibg. The inbreds were crossed to produce the 1st filial generation (F1) hybrids. F1 mice were bred to each other and were backcrossed to the parental strains to produce 3 hybrid generations with recombinant genotypes. The animals were tested for spatial learning ability in the Morris water task. All hybrid generations showed greater spatial learning ability than the inbreds, with F1 hybrids showing the greatest degree of spatial learning. The inheritance pattern for spatial learning differed between male and female mice, with males showing a type of inheritance in which dominant genes made the major contribution to the expression of the behavior. Females showed equal contributions of dominance deviation and additive genetic effects. The results are discussed in terms of fitness value to the animals.

Animals↗
PubMed1996

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

The delayed relaxation or sustained contraction of skeletal muscle-myotonia-is frequently seen in myotonic dystrophy and sodium channelopathies (hyperkalemic periodic paralysis, paramyotonia congenita). Many cases of congenital myotonia without other clinical symptoms have been associated with mutations in the muscle chloride channel gene. Most cases reported to date show a recessive inheritance pattern, with loss of function of the corresponding protein. Six families have been reported with dominantly inherited myotonia and mutations of the chloride channel gene. Here we report clinical and molecular data on 38 family members from four new families with dominantly inherited myotonia congenita. Three families show a previously characterized G230E mutation, and we show that these three share a common affected ancestor despite living in different regions of the United States (linkage disequilibrium). One Italian family is shown to have a novel dominant mutation-I290M. This is the sixth mutation identified in Thomsen's myotonia. Genotype/phenotype correlations in these four families showed that both of the dominant mutations resulted in a mild clinical picture in 90% of the patients, and no symptoms in 10% of mutation-positive patients. The EMG was the clinical feature that most closely correlated with mutation data; however, 3 of 16 (19%) mutation-positive patients tested negative by electromyography at least once, and 1 (6%) tested negative despite multiple tests. Only about half (55%) of the mutation-positive patients tested positive for percussion myotonia. Most of the clinically symptomatic individuals stated that cold temperatures and stress substantially worsened their myotonia. Our data show that dominantly inherited Thomsen's myotonia is most often a very mild disorder that shows considerable clinical heterogeneity.

Adult↗
PubMed1989

Neurological progress. The neuronal ceroid lipofuscinoses: a review.

Neuronal ceroid lipofuscinosis is a common cause of neurodegenerative disease in children. The disease is characterized by visual failure, seizures and dementia. The presence of cortical atrophy by computerized axial tomography and distinctive ultrastructural findings by skin biopsy, together with a suggestive clinical course and neurophysiologic abnormalities, lead to a diagnosis. Presently four subtypes and rare atypical forms are recognized: the infantile, late infantile, juvenile and adult or Kufs variants and atypical early juvenile and protracted juvenile types. The inheritance pattern is autosomal recessive in all subtypes with some of the adult cases representing autosomal dominant inheritance. The biochemical characterization of this disorder is just beginning. There is some evidence to implicate overglycosylation of proteins as playing a role in pathogenesis. Further biochemical description coupled with linkage analysis techniques using DNA probes are needed to develop a better understanding of this group of disorders.

Humans↗
PubMed1996

Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.

Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We postulate that alteration of normal function of the receptor tyrosine kinase, RET, may contribute to CCHS based on RET's expression pattern and the identification of RET mutations in HSCR patients. To further explore the nature of the inheritance of CCHS, we have undertaken two main routes of investigation: cytogenetic analysis and mutation detection. Cytogenetic analysis of metaphase chromosomes showed normal karyotypes in 13 of the 14 evaluated index cases; one index case carried a familial pericentric inversion on chromosome 2. Mutation analysis showed no sequence changes unique to index cases, as compared to control individuals, and as studied by single strand conformational polymorphism (SSCP) analysis of the coding region of RET. We conclude that point mutations in the RET coding region cannot account for a substantial fraction of CCHS in this patient population, and that other candidate genes involved in neural crest cell differentiation and development must be considered.

Child↗
PubMed1989

Definition and properties of disequilibria within nuclear-mitochondrial-chloroplast and other nuclear-dicytoplasmic systems.

We define and determine the interrelationships among five sets of disequilibrium parameters that measure two- and three-locus nonrandom associations in nuclear-dicytoplasmic systems. These assume a diploid nuclear locus and two haploid cytoplasmic loci, with special reference to nuclear-mitochondrial-chloroplast systems. Three sets of two-locus disequilibria measure the association between haplotypes at the two cytoplasmic loci (DMC) and associations between each cytoplasmic locus and nuclear alleles or genotypes (DM, D1M, D2M, D3M; DC, D1C, D2C, D3C). In addition, we present two classes of higher-order disequilibria that measure nonrandom allelic or genotypic associations involving all three loci. The first class quantifies associations between the nuclear locus and the two cytoplasmic loci taken jointly (DA/MC, DAA/MC, DAa/MC, Daa/MC, etc.), whereas the second measures only those associations remaining after all two-locus associations have been taken into account (DA/M/C, DAA/M/C, DAa/M/C, Daa/M/C). Based on combinations of these five sets of measures, we suggest a variety of parameterizations of three-locus, nuclear-dicytoplasmic systems. The dynamics of these disequilibria are then investigated under models of random and mixed mating, either with both cytoplasmic genomes inherited through the same parent or through opposite parents. Except for associations between the cytoplasmic haplotypes, which are constant when the two cytoplasmic genomes are inherited through the same parent, all disequilibria ultimately decay to zero. These randomizations do not necessarily occur monotonically, however, and in some cases are preceded by an initial increase in magnitude or sign change. For both inheritance patterns, the asymptotic decay rates are steadily retarded by increasing levels of self-fertilization. This behavior contrasts with that in the extreme case of complete selfing, for which only the heterozygote disequilibria always decay to zero. For all models considered, the dynamics of the two-locus cytonuclear subsystems are solely a function of the mating system, whereas the dynamical behavior and sign patterns of the cytoplasmic and three-locus disequilibria also depend strongly on the mode of cytoplasmic inheritance.

Cell Nucleus↗
PubMed2005

Hereditary thyroglossal duct cysts.

Thyroglossal duct cysts are one of the most commonly encountered benign neck lumps found in the paediatric population. Despite their relative frequency, reports of familial inheritance are rare. A total of 21 patients with hereditary thyroglossal duct cysts from seven families worldwide have been reported. The most common inheritance pattern is dominant, with a minority possibly representing a recessive aetiology. We describe a further instance of dominantly inherited thyroglossal duct cysts in two generations.

Child, Preschool↗
PubMed2005

Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families.

OBJECTIVE: Although previous reports have described patients with both cerebral and aortic aneurysms, any association was believed to be coincidental. In this study, we provide evidence that aortic and cerebral aneurysm formation may share a common genetic predisposition in some families. METHODS: A prospective enrollment of consecutive patients treated for saccular cerebral aneurysm by a single surgeon was constructed. Medical and family histories were obtained. Familial syndromes were identified when two or more first-degree relatives had diagnoses of cerebral or aortic aneurysm. Pedigrees were constructed, and asymptomatic relatives were screened. RESULTS: In 2.5 years, 274 patients were enrolled from 322 eligible patients (85%). A family history of aortic aneurysm was noted in 29 patients (10.5%). These patients were older, included more males, and were overwhelmingly Caucasian. Statistically significant demographic differences were noted when these families were compared with families affected by cerebral aneurysm only. A total of 110 affected family members were identified (average, 3.8 per family; range, 2-12); 59 had cerebral aneurysms, and 51 had aortic aneurysms. In some families, the association may have been coincidental. But in several families, pedigree analyses showed an inheritance pattern likely to represent autosomal dominance with variable penetrance. In addition, both cerebral and aortic phenotypes could be inherited from a parent with an aortic aneurysm, further evidence for a common genetic basis. CONCLUSION: This study, which represents the largest and most complete characterization of families affected by both cerebral and aortic aneurysms, provides evidence that a single gene defect may lead to the development of either lesion.

Aortic Aneurysm↗
PubMed2000

Molecular genetics of cataract.

Studies on hereditary congenital cataracts have led to the identification of genes involved in formation of these cataracts. Knowledge of the structure and function of a particular gene and the effect of disease-associated mutations on its function are providing insights into the mechanisms of cataract. Identification of the disease gene requires both the relevant clinical data as well as genetic data on the entire pedigree in which the disease is found to occur. Genes for hereditary cataract have been mapped by genetic linkage analysis, in which one examines the inheritance pattern of DNA markers throughout the genome in all individuals of the pedigree, and compares those with the inheritance of the disease. Cosegregation of a set of markers with disease implies that the disease gene is present at the same chromosomal location as those markers. The genes so far identified for hereditary cataracts in both humans and animal models encode structural lens proteins, gap junction proteins, membrane proteins and regulatory proteins involved in lens development. Understanding of the mechanisms of hereditary cataract may also help us understand the manner in which environmental and nutritional factors act on the lens to promote opacification.

Animals↗
PubMed2004

[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].

Pseudoxanthoma elasticum (PXE) is a hereditary disease of the connective tissue characterized by progressive dystrophic mineralization of elastic fibres. PXE patients have skin lesions, may experience loss of visual acuity and cardiovascular complications. The inheritance pattern of PXE is almost always autosomal recessive. In less than 2% of the families, PXE may be inherited in an autosomal dominant fashion. PXE is caused by mutations in the ABCC6 (MRP6) gene. The R1141X mutation is by far the most common mutation; it has been identified in 19 patients, or 30% of all PXE-patients in the Netherlands. The molecular pathology of PXE is complicated by yet unknown factors causing a variable clinical expression of the disease. In 80% of the 110 PXE patients the authors studied, at least one ABCC6 mutation was found. Molecular diagnostics of PXE is especially useful to confirm the clinical diagnosis.

Genes, Dominant↗
PubMed2006

Short-term sequence evolution and vertical inheritance of the Naegleria twin-ribozyme group I intron.

BACKGROUND: Ribosomal DNA of several species of the free-living Naegleria amoeba harbors an optional group I intron within the nuclear small subunit ribosomal RNA gene. The intron (Nae.S516) has a complex organization of two ribozyme domains (NaGIR1 and NaGIR2) and a homing endonuclease gene (NaHEG). NaGIR2 is responsible for intron excision, exon ligation, and full-length intron RNA circularization, reactions typical for nuclear group I intron ribozymes. NaGIR1, however, is essential for NaHEG expression by generating the 5' end of the homing endonuclease messenger RNA. Interestingly, this unusual class of ribozyme adds a lariat-cap at the mRNA. RESULTS: To elucidate the evolutionary history of the Nae.S516 twin-ribozyme introns we have analyzed 13 natural variants present in distinct Naegleria isolates. Structural variabilities were noted within both the ribozyme domains and provide strong comparative support to the intron secondary structure. One of the introns, present in N. martinezi NG872, contains hallmarks of a degenerated NaHEG. Phylogenetic analyses performed on separate data sets representing NaGIR1, NaGIR2, NaHEG, and ITS1-5.8S-ITS2 ribosomal DNA are consistent with an overall vertical inheritance pattern of the intron within the Naegleria genus. CONCLUSION: The Nae.S516 twin-ribozyme intron was gained early in the Naegleria evolution with subsequent vertical inheritance. The intron was lost in the majority of isolates (70%), leaving a widespread but scattered distribution pattern. Why the apparent asexual Naegleria amoebae harbors active intron homing endonucleases, dependent on sexual reproduction for its function, remains a puzzle.

Amino Acid Sequence↗
PubMed1997

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation. All findings in this case are consistent with those described as a newly recognized syndrome by Donnai and Barrow [1993]. Since the parents are first cousins, this case provides further evidence for the previously postulated autosomal recessive inheritance pattern. Follow-up on the patients and families reported by Donnai and Barrow [1993] also supports autosomal recessive inheritance.

Adult↗