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At least 199 records · Page 11Linked to original sources
PubMed1988

Steatocystoma multiplex with bilateral preauricular sinuses in four generations.

A rare case of steatocystoma multiplex and bilateral preauricular sinuses in four generations is presented along with a review of the literature. The cause, pathogenesis, and treatment of steatocystoma multiplex is discussed. Steatocystoma multiplex (SCM) is a rare clinical disorder characterized by numerous recurrent cutaneous cysts. Since the first case described by Bosellini in 1898, both nonfamilial and autosomal dominant inheritance patterns have been described. There have been at least 13 well-documented nonfamilial cases. However, since Noonjin and Reynolds in 1948 first described the autosomal dominant inheritance pattern, only 4 well-documented familial cases have been reported. To date, there has been one case report of SCM in four generations, and that case was not associated with any other anomaly. The present case describes the occurrence of SCM in association with bilateral preauricular sinuses in multiple generations.

Adult↗
PubMed2000

Sporadic congenital leukonychia with partial phenotype expression.

GOAL: To describe the characteristics and inheritance pattern of a case of congenital leukonychia. OBJECTIVES: 1. To describe the etiologies of congenital and acquired leukonychia. 2. To discuss the differential diagnosis of leukonychia. 3. To outline inheritance patterns associated with leukonychia.

Child↗
PubMed2005

Highly consistent patterns for inherited human diseases at the molecular level.

Over 1600 mammalian genes are known to cause an inherited disorder, when subjected to one or more mutations. These disease genes represent a unique resource for the identification and quantification of relationships between phenotypic attributes of a disease and the molecular features of the associated disease genes, including their ascribed annotated functional classes and expression patterns. Such analyses can provide a more global perspective and a deeper understanding of the probable causes underlying human hereditary diseases. In this perspective and critical view of disease genomics, we present a comparative analysis of genes reported to cause inherited diseases in humans in terms of their causative effects on physiology, their genetics and inheritance modes, the functional processes they are involved in and their expression profiles across a wide spectrum of tissues. Our analysis reveals that there are more extensive correlations between these attributes of genetic disease genes than previously appreciated. For instance, the functional pattern of genes causing dominant and recessive diseases is markedly different. Also, the function of the genes and their expression correlate with the type of disease they cause when mutated. The results further indicate that a comparative genomics approach for the analysis of genes linked to human genetic diseases will facilitate the elucidation of the underlying molecular and cellular mechanisms.

Biomarkers↗
PubMed1994

Anticipation in Swedish families with bipolar affective disorder.

Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity or decrease in age at onset or both in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in different disorders. We have studied differences of age at onset and disease severity between two generations in 14 families with unilinear inheritance of bipolar affective disorder (BPAD). There was a significant difference in age at onset (p < 0.008), in episodes per year with (p < 0.006) and without (p < 0.03) lithium treatment, and in total episodes per year (p < 0.002) between generations I and II. Furthermore, there was a highly significant correlation (p < 0.001) in age at onset between generations I and II. No evidence for specific paternal or maternal inheritance was found. We found evidence of anticipation and could rule out ascertainment bias or some other artefact. Anticipation is thus an inheritance pattern in BPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in BPAD.

Adolescent↗
PubMed1990

Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family.

A 44-year-old patient with bilateral keratoconus and bilateral Fuchs' dystrophy underwent penetrating keratoplasty. Examination of the patient's family revealed keratoconus in the patient's son and central guttata and abnormal endothelial cells in the patient's mother and daughter. Histopathologic evaluation of the corneal button demonstrated a thinned central epithelium and folds and keratocytes in Bowman's layer consistent with keratoconus. Central guttata, subepithelial bullae, and a decreased number of endothelial cells, consistent with Fuchs' endothelial dystrophy, were also seen. This case demonstrates that two distinct familial corneal diseases can occur in the same patient. Although one cannot conclude inheritance patterns based on this limited evaluation, the findings in this family support previous observations that keratoconus can be familial, and that Fuchs' corneal dystrophy has a female predilection with an autosomal-dominant inheritance pattern.

Adult↗
PubMed2001

A new congenital myopathy in a Norwegian family.

UNLABELLED: A 6-y-old boy presented with a mild, and apparently non-progressive, congenital myopathy, primarily affecting explosive movements such as running and jumping. Five other cases, spanning four generations, were identified in his family. A dominant inheritance pattern was suggested. Quadriceps muscle histology showed a selective type II fibre atrophy, which is otherwise considered a non-specific change associated with a number of conditions. CONCLUSION: A Norwegian boy with an inherited muscle weakness is presented. Based on clinical and laboratory investigations, and in light of the inheritance pattern, a previously undescribed congenital myopathy is suggested.

Child↗
PubMed2000

Report of a family with dominantly inherited upper lid entropion.

AIM: To report the occurrence of late onset, bilateral, idiopathic upper lid entropion, occurring in three members of the same family, with a known family history. METHODS: Five family members were examined, and a history taken, at Moorfields Eye Hospital. Three patients were treated surgically, and one also had a tarsoconjunctival biopsy. RESULTS: In all cases, no aetiology was found. The family history suggests an autosomal dominant inheritance pattern. All patients were treated with anterior lamellar repositioning, and had optimal results. CONCLUSION: The family reported seems to be affected by a familial form of primary acquired upper lid entropion, that shows an autosomal dominant inheritance pattern.

Adolescent↗
PubMed1995

Anticipation in unipolar affective disorder.

Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity and/or decrease in age at onset in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in a neuromuscular disease, various neurodegenerative disorders and mental retardation. We have studied parent-offspring differences in age at onset and disease severity in 31 pairs with unilineal inheritance of unipolar affective disorder (UPAD). Life-table analyses showed a significant decrease in survival to 1st episode of major depression in the offspring generation compared with the parental generation (P = 0.0007). There was also a significant difference in age at onset (P < 0.001) between parents and offsprings. The offspring generation experienced onset 15.6 years earlier and illness 1.5 x more severe than did the parent generation. Furthermore, there was a significant correlation (P < 0.05) in age at onset between parent and offspring generations. When we excluded pairs where the affected parent has an age of onset greater than the age of the child at the time of ascertainment (i.e., 23 pairs left), there was still a significant (P = 0.02) decrease in age at onset (8.4 years) and 1.5 x more severe disease in the offspring generation. No evidence for specific maternal or paternal inheritance was found. We found evidence of anticipation in 75-80% of this sample of unilineal family pairs of UPAD. Anticipation is, thus, an inheritance pattern in a large group of UPAD which suggests that the expansion of trinucleotide repeat sequences is a possible mode of inheritance in this group of UPAD. The findings of anticipation in this study of families with UPAD and previous findings in families with BPAD suggest that the variable expression of unstable expansions of trinucleotide repeats may turn out to be the basis of the continuum of liability in affective disorders.

Adolescent↗
PubMed1987

Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.

We report a pedigree in which a syndrome that resembled familial Mediterranean fever occurred in four family members over three successive generations. All four patients had systemic amyloidosis. Typically, patients with familial Mediterranean fever show an autosomal recessive inheritance pattern. The disorder commonly afflicts Sephardic Jews, Arabs, and persons of Turkish descent. Colchicine therapy dramatically reduces the attack rate of serositis. The family described herein is unique because of their European ethnicity and the autosomal dominant inheritance pattern. Unlike typical familial Mediterranean fever, colchicine had no influence on the attacks and did not prevent amyloidosis in the three patients who received this treatment.

Adult↗
PubMedDate not supplied

Fleck dystrophy of the cornea; a report of cases from three generations of a family.

Fleck dystrophy of the cornea is characterized by numerous, tiny, small opacities scattered throughout the entire corneal stroma. The mode of inheritance is autosomal dominant, and this dystrophy is considered to be bilaterally symmetric. This report describes five members from three-generations of the same family with corneal fleck dystrophy. Their clinical features and genetic inheritance pattern are discussed. Visual acuity in all patients was normal and the density of opacities were similar except for two patients with less density. Except for one who presented with mild photophobia all patients were asymptomatic. The inheritance pattern appeared as autosomal dominant with variable expression.

Adolescent↗
PubMed2005

A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa.

INTRODUCTION: Retinitis pigmentosa (RP) is a group of hereditary retinal diseases in which photoreceptor cells degenerate. It is both clinically and genetically heterogenous. Using a two-stage approach by combining linkage analysis with mutation detection, we have rapidly identified the gene locus and the mutation site of a Chinese Singaporean family with autosomal dominant RP. MATERIALS AND METHODS: Three Chinese Singaporean families were tested. One family showed autosomal dominant inheritance pattern, while the other two could be recessive or sporadic. Twelve di-nucleotide markers tightly linked to 6 genes known to be responsible for either autosomal dominant or recessive RP were selected for linkage analysis. Cosegregation of marker and disease inheritance pattern permits identification of the target candidate gene. RFLP (restriction fragment length polymorphism) markers were added to confirm the linkage result prior to the detailed mutation detection study. RESULTS: With this two-stage strategy, the autosomal dominant RP family showed the rhodopsin locus segregating concordantly with the disease. Mutation screening later identified a nonsense mutation 5261C>T in the last exon of rhodopsin gene. It predicted a Q344X changes at the C-terminus of the gene product, truncating it by 5 amino acids. CONCLUSION: This systematic approach facilitates molecular diagnosis of a genetically heterogenous disease like RP. This is the first report of an RP mutation in Singapore. This 5261C>T mutation has been reported in the Caucasian, but not the Chinese population. The relatively milder phenotype in this family showed similarity to the reported US family, indicating the correlation of mutation site to severity of disease regardless of ethnicity.

Asian People↗
PubMed1982

Mode of inheritance of hypertrophic cardiomyopathy in Iceland. Echocardiographic study.

We used an abnormally thick interventricular septum (greater than or equal to 1.3 cm) as an echocardiographic marker to find the inheritance pattern of hypertrophic cardiomyopathy among relatives of eight patients who had that disease at necropsy. Forty normal subjects served as a control group. Fifty-eight family members were examined and 18 (41%) of the 44 first degree relatives had hypertrophic cardiomyopathy. The overall inheritance pattern was consistent with an autosomal dominant genetic disorder and in one family a recessive trait could be excluded. The diagnosis of hypertrophic cardiomyopathy can be difficult clinically as only 13% of our patients had serious symptoms and only 30% had abnormal auscultatory findings. The electrocardiogram is a useful screening test among relatives as it was abnormal in 20 (87%) of those who had an abnormally thick septum. Symmetric septal hypertrophy was found in 30% of patients with cardiomyopathy in this study and only 17% had clinical evidence of obstruction.

Adolescent↗
PubMed1990

Prognostic significance of nondiploid DNA determined by flow cytometry in sporadic and familial medullary thyroid carcinoma.

To clarify the role of DNA measurements in predicting outcome after surgical treatment of medullary thyroid carcinoma (MTC), we performed flow cytometric analysis in nuclear suspensions of 119 MTC tumors. Of the 119 patients, 63 (53%) patients had sporadic tumors and 56 (47%) patients had familial tumors; survivors were followed for a mean of 13 years. DNA content was normal in 92 (77%) patients and abnormal (nondiploid) in 27 (23%) patients. Ten-year cause-specific mortality rates were 12%, 42%, and 49% with diploid, tetraploid/polyploid, or aneuploid tumors (p = 0.0009) and were greater with nondiploid tumors both in the sporadic (p = 0.012) and multiple endocrine neoplasia (familial) cases (p = 0.114). None of 27 patients with TNM stage I disease died of MTC. In patients with TNM stages II, III, and IV disease, DNA nondiploid tumors were associated with increased deaths from MTC. In a Cox proportional hazards model involving all 119 patients and adjusted for disease stage and inheritance pattern, nondiploid DNA was independently associated with increased deaths from MTC (p = 0.008). In an identical Cox model restricted to the 92 DNA diploid tumors, an S-phase fraction of 15.0% or more remained a significant variable (p = 0.034) after adjustment for stage and inheritance pattern. We therefore conclude that DNA measurements do have a role to play in predicting outcome after surgical treatment of MTC.

Adolescent↗
PubMed1992

An RFLP map of the Plasmodium falciparum genome, recombination rates and favored linkage groups in a genetic cross.

We report a genetic linkage map of the Plasmodium falciparum genome, using the inheritance patterns of nearly 90 RFLP markers in a genetic cross. Markers were assigned to polymorphic loci on all 14 nuclear chromosomes. Genetic recombination between parental markers was detected in each of the progeny, indicating that progeny from cross-fertilization events were favored over progeny from self-fertilization of either parent alone. Inheritance patterns among the markers suggested that certain parental linkage groups on chromosomes 2, 3, 12 and 13 were favored in the cross. Recombination frequencies on five chromosomes indicated an approximate map unit size of 15-30 kb per centiMorgan for P. falciparum.

Animals↗
PubMedDate not supplied

Susceptibility to spontaneous atherosclerosis in pigeons: an autosomal recessive trait.

The inheritance pattern for susceptibility to spontaneous (noninduced) aortic atherosclerosis in pigeons was determined by crossbreeding and backcrossing experiments with atherosclerosis-susceptible White Carneau and atherosclerosis-resistant Show Racer breeds. Susceptibility, assessed by the presence of grossly visible lesions at the celiac bifurcation of the aorta at 3 years of age, demonstrated an inheritance pattern consistent with an autosomal recessive Mendelian trait. Cell culture studies indicated that susceptibility is a constitutive property of aortic cells as evidenced by vacuole formation and lipid content in smooth muscle cells from various tissues in susceptible pigeons.

Animals↗
PubMed2003

Autosomal recessive form of periventricular heterotopia.

BACKGROUND: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern. OBJECTIVE: To classify cortical malformation syndromes associated with PH. METHODS: Analyses using microsatellite markers directed toward genomic regions of FLNA and to a highly homologous autosomal gene, FLNB, were performed on two pedigrees to evaluate for linkage with either filamin gene. RESULTS: Two consanguineous pedigrees with PH that suggest an autosomal recessive inheritance pattern are reported. MRI of the brain revealed periventricular nodules of cerebral gray matter intensity, typical for PH. Seizures or developmental delay appeared to be a common presenting feature. Microsatellite analysis suggested no linkage to FLNA or FLNB. CONCLUSIONS: Autosomal recessive PH is another syndromic migrational disorder, distinct from X-linked dominant PH. Further classification of these different syndromes will provide an approach for genetic evaluation.

Adult↗
PubMed2003

Molecular genetic testing for prenatal diagnosis.

In the past few decades, enormous progress has been made in the field of prenatal molecular genetic testing. Based on the inheritance patterns of the disease and type of mutation, prenatal diagnosis is possible using direct or indirect methods of detection. Although direct mutation analysis is highly accurate, accuracy of indirect mutation analysis depends on the distance of the DNA marker to the disease locus. In the past decade, the discovery of new concepts--such as atypical inheritance patterns due to UPD and imprinting and triplet repeat disorders--have helped to increase understanding of the molecular basis of these unusual genetic disorders. Prenatal diagnosis using a single cell from a blastomere is rapidly becoming routine in clinical practice. Noninvasive procedures to obtain fetal DNA for molecular testing also are progressing very rapidly. With the completion of the genome project, resources now are available for developing new technologies, such as microarrays (DNA chips), for accurate, simultaneous, mutation detection. The next few decades hold the promise of many more advances in genetic testing, drug discovery, and therapy.

Adult↗
PubMed1993

The inheritance of vertebral shape in the mouse. II. A study using Fourier analysis to examine the inheritance of patterns of vertebral variation in the cervical and upper thoracic vertebral column.

In this paper we continue an earlier study which examined shape differences between the cervical and upper thoracic vertebrae of 2 inbred strains of mice (CBA, C57BL) and their F1. Our earlier study showed that the amount of shape difference varied between different vertebrae, even from adjacent levels, and that the vertebrae of the F1s showed a degree of resemblance to one or other parental strain which varied from vertebral level to vertebral level. We have suggested that this variation from level to level may have evolutionary significance in that it demonstrates a degree of autonomy in the genetic control of vertebral morphology between successive levels and, as such, allows the possibility of a form of mosaic evolution. In this study we further consider the inheritance of vertebral morphology both in the above-mentioned and in other crosses: this time, however, we focus on the ways in which vertebral morphology changes from level to level and on any differences in patterns of metameric change between inbred strains and their offspring. Our findings indicate that the morphology of vertebrae shows a metameric gradation in shape and that the rates of shape change along the column can vary from region to region. Furthermore, the F1 between 2 inbred strains may follow the pattern of variation characteristic of one parent for several metameric segments at a time. Different crosses between different inbred strains indicate that many genes influence the pattern of metameric variation in the vertebral column and that these genes have different actions along the column.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗