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PubMed1977

Bilateral absence of the kidneys and ureters. Three cases reported in one family.

Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance pattern which has been previously described. An additional male first cousin born to the mother's sister is sugesstive of sex-linked inheritance for this particular family, an inheritance pattern not previously described.

Abnormalities, Multiple↗

PubMed1993

Autosomal dominant inheritance of iridogoniodysgenesis and cataract.

BACKGROUND: There has been only one report in the literature of iridogoniodysgenesis associated with cataracts in two brothers. In that report, the authors conclude that the condition was inherited by autosomal recessive transmission. METHODS: The authors evaluated 10 members in three generations of a family in which there is a striking prevalence of pre-senile hypermature cataract formation and iridogoniodysgenesis. In addition, historical information regarding two deceased members of the family was studied. RESULTS: Six of 10 family members evaluated have iridogoniodysgenesis. Four of five siblings have had pre-senile hypermature cataracts. Despite the iridogoniodysgenesis, there appears to be no association with glaucoma in any of these patients. CONCLUSION: The inheritance pattern of this syndrome appears to be that of autosomal dominance with variable penetrance. The authors believe that this report helps to clarify the inheritance pattern of this previously described hereditary syndrome.

Adolescent↗

PubMed1994

Mineral distribution in the enamel of teeth with amelogenesis imperfecta as determined by quantitative microradiography.

The aim of the present investigation was to determine the mineral distribution in the enamel of teeth with amelogenesis imperfecta (AI) by quantitative microradiography. A further aim was to correlate the findings to clinical manifestations and inheritance patterns for AI. Included in the study were a total of 29 teeth with AI, 28 primary and one permanent, and seven unaffected teeth, five primary and two permanent. Quantitative microradiography was applied to sagittally ground sections, 70-90 microns, of the teeth. The mineral content of the enamel, expressed as percentage by volume, was lower in most of the teeth with AI than in the unaffected teeth. The largest range for the mineral distribution was found in the enamel of the variants clinically characterized by hypomineralization. These teeth showed a mineral distribution pattern that reflected an extremely low mineral content in the bulk of the enamel. In the AI teeth clinically characterized by hypoplasia, the mineral distribution pattern was similar to that of the unaffected teeth, although with larger local variations in mineral content. Apart from the teeth connected with X-linked inheritance, no differences were found among teeth with similar clinical variants connected with different inheritance patterns.

Amelogenesis Imperfecta↗

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↗

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↗

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↗

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↗

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↗

PubMedDate not supplied

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.

A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.

Adolescent↗

PubMed1993

Unidirectional dominance of cytoplasmic inheritance in two genetic crosses of Plasmodium falciparum.

Malarial parasites have two highly conserved cytoplasmic DNA molecules: a 6-kb tandemly arrayed DNA that has characteristics of a mitochondrial genome, and a 35-kb circular DNA that encodes functions commonly found in chloroplasts. We examined the inheritance pattern of these elements in two genetic crosses of Plasmodium falciparum clones. Parent-specific oligonucleotide probes and single-strand conformation polymorphism analysis identified single nucleotide changes that distinguished the parental 6- and 35-kb DNA molecules in the progeny. In all 16 independent recombinant progeny of a cross between a Central American clone, HB3, and a Southeast Asian clone, Dd2, the 6- and 35-kb DNAs were inherited from the Dd2 parent. In all nine independent recombinant progeny of a cross between clone HB3 and a likely African clone, 3D7, the 6-kb DNA was inherited from the 3D7 parent. Inheritance of cytoplasmic genomes of the Dd2 and 3D7 parents was, therefore, dominant over that of the HB3 parent. Cytoplasmic DNA molecules were found almost exclusively in the female gametes of malarial parasites; hence, clone HB3 did not appear to have served as a maternal parent for the progeny of two crosses. Defective differentiation into male gametes by clone Dd2 is likely to be a reason for the cytoplasmic inheritance pattern seen in the HB3 x Dd2 cross. However, incompetence of male or female gametes is unlikely to explain the uniparental dominance in recombinant progeny of the HB3 x 3D7 cross, since both parents readily self-fertilized and completed the malaria life cycle on their own. Instead, the data suggest unidirectional parental incompatibility in cross-fertilization of these malarial parasites, where a usually cosexual parental clone can participate only as a male or as a female. Such an incompatibility may be speculated as indicating an early phase of reproductive isolation of P. falciparum clones from different geographical regions.

Animals↗

PubMed1988

A family study of multiple mutations of alpha and delta glycophorins (glycophorins A and B).

Glycophorins alpha and delta are the carriers of the antigens of the MNSs blood system; this report documents the presence of three glycophorin mutations in two individuals of a 16 member family. Erythrocytes were examined by serology, sodium dodecyl sulfate electrophoresis, and immunoblotting. The inheritance pattern and immunoblot profile revealed: (1) A variant Dantu glycophorin showed properties consistent with a delta-alpha glycophorin hybrid structure, previously noted in other individuals. The gene responsible for the Dantu glycophorin in this family is linked to a gene coding for an M-specific alpha glycophorin. (2) Another variant glycophorin, Mi-III glycophorin, was first revealed by immunoblotting and subsequently confirmed by erythrocyte antigen typing. This autosomal dominant trait is associated with N blood group activity and the inheritance pattern indicates that it could be a variant of delta glycophorin. (3) In the individuals with both Dantu and Mi-III glycophorins a delta glycophorin deficiency was observed suggesting that a deletion or alteration of delta gene may exist cis to the Dantu gene. Our findings that document clustering of multiple mutations in MNSs gene loci in the propositus family are very unusual as such variants are relatively rare.

Female↗

PubMedDate not supplied

Linkage analysis of schizophrenia: challenges and promise.

Schizophrenia is a serious mental illness affecting nearly 1 per cent of the general population. Family, twin, and adoption studies suggest that genetics plays a major role in the etiology of schizophrenia. The inheritance pattern appears complex, similar to that of other common conditions like heart disease. To uncover a causal genetic factor, researchers have recently begun to apply a linkage analysis strategy to schizophrenia. Early results suggest that there are many challenges facing scientists who undertake schizophrenia genetics research. While one study has shown significant linkage of schizophrenia to a region on chromosome 5, several other studies have not found linkage to this area. The likelihood that there are several major genes predisposing to the illness and uncertainties about inheritance patterns and diagnostic boundaries are potential difficulties to overcome. Many more families need to be studied, and creative complementary research strategies pursued, to achieve the potential success offered by a genetic linkage approach.

Adolescent↗

PubMed1994

Familial paragangliomas of the head and neck.

OBJECTIVE: It has been known for some time that paragangliomas of the head and neck may be familial. Recent evidence suggests genomic imprinting is an important factor in the clinical development of these tumors. In genomic imprinting the imprintable gene is transmitted in a mendelian manner, but expression of the gene is determined by the sex of the transmitting parent. In the case of paragangliomas, the gene does not result in the development of tumors when maternally inherited. The purpose of this study was to determine if this hypothesis correctly predicted the inheritance pattern of familial paraganglioma in a large series of patients. SETTING: A retrospective review of case records of the Mayo Clinic, Rochester, Minn, a tertiary referral center, was performed for the years 1950 to 1992 to identify patients with familial paragangliomas of the head and neck. PATIENTS: A total of 38 patients with familial paragangliomas of the head and neck were identified in nine kindreds. RESULTS: Carotid body tumors were the most common paragangliomas of the head and neck (34 cases). Glomus jugulare or glomus vagale occurred in eight cases. In 16 (42%) of the patients there were multiple tumors. Surgical complications, primarily cranial nerve palsies, were more frequent for tumors larger than 5 cm in diameter. CONCLUSIONS: An autosomal dominant inheritance pattern could be shown for paragangliomas of the head and neck that was consistent with genomic imprinting. It is recommended that all individuals in kindreds with paragangliomas be screened after the age of 16 years to detect early asymptomatic tumors.

Adolescent↗