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PubMed1989

Autosomal dominantly inherited macular dystrophy with preferential short-wavelength sensitive cone involvement.

We found an apparently inherited tritan-like color vision defect in five members of a family, spanning three generations. The defect was associated with mild macular pigmentary changes, poor foveolar reflexes, or slightly reduced visual acuity in four of the affected individuals. The inheritance pattern appeared to be autosomal dominant. Results of various color vision tests indicated preferential involvement of the short-wavelength sensitive cone system, with relative preservation of the middle- and long-wavelength sensitive cone systems. Both anomaloscope testing with larger (8-degree) fields and short-wavelength sensitive electroretinography indicated some short-wavelength sensitive cone system involvement beyond the central macula in the three affected individuals on whom testing was performed. The condition appeared to be a familial macular dystrophy with preferential short-wavelength sensitive cone involvement. The abnormal macular findings and mild reduction in visual acuity distinguish this condition from congenital tritanopia; the normal optic disks distinguish it from autosomal dominant optic atrophy.

Adolescent↗
PubMed1985

Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease.

Cholesteryl ester storage disease, caused by the loss of lysosomal acid ester hydrolase (EC 3.1.1.13), has been previously associated with hyperlipidemia and premature atherosclerosis. We identified a 23-month-old female with cholesteryl ester storage disease and characterized the plasma lipids and lipoproteins in the proband and her family. These studies illustrate several important points about this disease. First, a high index of suspicion is required to diagnose this disease since the major physical manifestation of the disorder, mild hepatomegaly, is subtle. Second, the Type II hyperlipoproteinemia in the proband is paralleled by a reduction in the concentration of high density lipoproteins. Third, analysis of the plasma lipids and lipoproteins in family members revealed both Type II and Type IV hyperlipoproteinemia with an inheritance pattern similar to that of familial combined hyperlipoproteinemia. Fourth, the parents and brother of this patient had 50% normal fibroblast acid ester hydrolase activity. These results raise the possibility that deficiency of the lysosomal acid ester hydrolase may be linked to familial combined hyperlipoproteinemia and that this enzyme deficiency may be more common than previously appreciated.

Biopsy↗
PubMed1995

Primary structure of the serotonin transporter in unipolar depression and bipolar disorder.

Genetic factors have been implicated in the etiology of affective disorders but due to the complex inheritance patterns of these disorders, identification of the responsible gene(s) has so far been unsuccessful. Decreased platelet serotonin (5-HT) transport and reduced binding of imipramine or paroxetine to brain and platelet 5-HT uptake sites/transporters in patients with depression and suicide victims define the 5-HT transporter (5-HTT) as a candidate gene. The primary structure of the 5-HTT was analyzed in 17 patients meeting DSM-III-R diagnostic criteria for major depressive or bipolar disorder and in 4 healthy controls using polymerase chain reaction (PCR-) amplification and sequencing of complementary deoxyribose nucleic acid (cDNA) synthesized from platelet 5-HTT messenger ribose nucleic acid (mRNA). Direct PCR sequencing of the protein coding region failed to reveal changes in the deduced amino acid sequence of the platelet/brain 5-HTT (40,000 base pairs sequence screened), although a conservative single-base substitution representing a silent polymorphism was found. The results provide preliminary evidence that alterations in the primary structure of 5-HTT are not generally involved in the pathogenesis of unipolar depression and manic-depressive illness.

Adult↗
PubMed1985

The spectrum of the oro-facial digital syndrome.

The Oro-facial Digital Syndromes are well recognised, but confusion exists over their characteristics and nomenclature, especially as two new types have recently been described. Since there is no single feature that distinguishes one type from another, the authors recommend that classification be restricted to those sub-divisions with a known inheritance pattern, i.e., Types I and II. This enables accurate genetic counselling to be offered whilst accepting the variable clinical presentation. The literature is reviewed and seven new cases are presented.

Abnormalities, Multiple↗
PubMed1983

Sex differences in the phenotypic expression of avian dystrophy.

Although the gene for muscular dystrophy in chickens is not sex-linked, results from clinical tests suggest that it is expressed differently in males and females. As measurement of muscle contractile responses provides a quantitative index for the severity of the disease, the contractile properties of the extensor digitorum communis muscle were examined in normal and dystrophic chickens with respect to sex. Furthermore, these differences were examined in young (6 to 9 weeks) and old (greater than 6 months) chickens. Results showed that age-related sex differences were apparent for those mechanical parameters of the muscle (in particular the posttetanic potentiation and posttetanic contracture) known to distinguish normal and dystrophic birds. The sex differences observed in the younger group indicate that the female birds were more severely affected by the disease than were the male. In the older group, the male were affected by the disease more severely than age-matched female birds. If the inheritance pattern is truly autosomal then it is likely that one or more developmental factors interact with the dystrophic genotype and alter the dystrophic phenotype.

Animals↗
PubMed1993

Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review.

Hereditary nonpolyposis colorectal cancer (HNPCC) dates to Warthin's description of family G, which he began studying in 1895. Warthin's observations were not fully appreciated until 1966 when two families with an autosomal dominant inheritance pattern of nonpolyposis colorectal cancer (CRC) and endometrial cancer were described. This condition was first termed the "cancer family syndrome" and was later renamed HNPCC. Some have proposed that HNPCC consists of at least two syndromes: Lynch syndrome I, with hereditary predisposition for CRC having early (approximately 44 years) age of onset, a proclivity (70%) for the proximal colon, and an excess of synchronous and metachronous colonic cancers and Lynch syndrome II, featuring a similar colonic phenotype accompanied by a high risk for carcinoma of the endometrium. Transitional cell carcinoma of the ureter and renal pelvis and carcinomas of the stomach, small bowel, ovary, and pancreas also afflict some families. Current estimates indicate that HNPCC may account for as much as 6% of the total CRC burden. There are no known premonitory phenotypic signs or biomarkers of cancer susceptibility in the Lynch syndromes. This report will summarize current knowledge, with emphasis on the manner in which this knowledge can be employed effectively for diagnosis and management of HNPCC.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed1985

Characterization of plasma lipids and lipoproteins in patients with beta 2-glycoprotein I (apolipoprotein H) deficiency.

The fasting plasma lipids, lipoproteins, and apolipoproteins were evaluated in 5 subjects with undetectable levels of the plasma protein beta 2-glycoprotein I (apolipoprotein H). Family studies confirmed an autosomal co-dominant inheritance pattern for the concentrations of apo H. The total lack of this protein is rare and less than 0.3% of clinic patients demonstrated levels undetectable by radial immunodiffusion. Plasma lipoprotein evaluation in these subjects with beta 2-glycoprotein I absence by analytical ultracentrifugation and compositional analysis demonstrated low concentrations of HDL2b and HDL3. More striking, however, was the lack of a consistent marked effect on the plasma lipoproteins as is found in other apolipoprotein deficiency states. We conclude that the lack of apolipoprotein H does not result in a significant perturbation of normal lipoprotein metabolism as reflected by analysis of fasting plasma lipoproteins. Further study is required to evaluate the role of this glycoprotein in the metabolism of triglyceride-rich lipoproteins.

Adult↗
PubMed1981

Speech and language characteristics of genetic syndromes.

A series of tables is presented as a diagnostic aid for the clinician when presented with a client who has a genetic syndrome. Information is provided on physical features, inheritance pattern, incidence rate, speech and language characteristics, and references. The speech and language clinician is cautioned that there is great variation of expression in genetic syndromes. However, the tables can be used to find those characteristics identified in the literature as manifested in a particular genetic syndrome.

Abnormalities, Multiple↗
PubMed1992

Tracking disease genes by reverse genetics.

Increasingly, human genes are being identified by the "reverse genetics", or "positional cloning" approach. This molecular genetic strategy is particularly useful in mental illness, for which no readily detectable functional alterations are present to indicate candidate genes. The positional cloning procedure is briefly described. Significant examples of successful positional cloning are presented, including the fragile-X mental retardation syndrome gene. The study of gene expression may be complicated by genetic and non-genetic variability. Genomic imprinting may play a role in several mental illnesses, and may provide an explanation for the unusual inheritance pattern in fragile-X syndrome, for the phenotypic differences observed between Angelman and Prader-Willi syndromes, and for the juvenile onset form of Huntington disease. DNA instability may explain disease anticipation in fragile-X syndrome and myotonic dystrophy. Finally, the prospects of improvements in positional cloning methods for tracking genes responsible for mental illness are briefly discussed.

Chromosome Mapping↗
PubMed1987

The syndromes of androgen resistance revisited.

A revisit to the existing complexities of the androgen resistance syndromes within the frame of our current knowledge was undertaken. Recent contributions of these and other laboratories are presented according to the topographic intracellular location of the underlying abnormalities causing these inherited disorders. Thus, the clinical spectrum, inherited pattern and biochemical features of defective androgen action at the pre-receptor, receptor, and post-receptor levels are examined. In addition, the effects of androgens on the development of gender role is discussed, with particular focus on patients with pre-receptor defects. It was concluded that a better understanding of the nature of the altered events in these syndromes has been achieved over recent years, although several important issues still remain unsolved.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1985

Familial Creutzfeldt-Jakob disease in Japan. Three cases in a family with white matter involvement.

Three cases of Creutzfeldt-Jakob disease occurring in one family have been clinicopathologically examined. Although the age at onset, duration, and age at death differed for each case, pathological findings, including diffuse neuronal loss, astrocytosis, spongiform changes and patchy and/or diffuse white matter involvement were similar. Life histories and inheritance patterns of the present 3 cases and 2 other families previously reported in Japan are compared with the general findings for familial cases in western countries.

Aged↗
PubMed1988

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.

We report a large Belgian family with Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy type I (HMSN-I). The pedigree consists of 5 generations with 350 family members comprising 42 patients. The disease is transmitted according to an autosomal dominant inheritance pattern. Several HMSN-I families have been reported to be closely linked to the Duffy blood group marker on chromosome 1. These families were designated HMSN-Ib families, opposed to the HMSN-Ia families which do not show evidence for such a linkage. Therefore we examined our family for the Duffy linkage relationship. We found no evidence for a strong linkage of the disease to the Duffy blood group locus, indicating that this family is of genetic subtype Ia.

Blood Group Antigens↗
PubMed1975

Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.

Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.

Abnormalities, Multiple↗
PubMed1980

Myotonic dystrophy: report of a case.

A brief description of the systemic and oral manifestations and the inheritance pattern of a family with myotonic dystrophy (MD) is presented. Relevant intraoral findings in this case included constricted maxillary and mandibular dental arches with adequate intercuspation and functional occlusion. A possible explanation for these atypical findings is discussed. Considerations for providing complete dental care and treatment for patients with MD are emphasized.

Adult↗
PubMedDate not supplied

Metabolic tapetoretinal degenerations.

There are a number of metabolic diseases which cause tapetoretinal degeneration, suggesting that pure pigmentary retinopathy may also be metabolic in nature. On the other hand tapetoretinal degenerations may have various modes of inheritance, so we may conclude that the metabolic disorder at the basis of these diseases is not unique and that tapetoretinal degenerations are heterogenic. In this article, some 450 published reports on tapetoretinal degenerations are reviewed. Based on these reports, the clinical and ocular manifestations, laboratory and histopathological findings, inheritance patterns, and treatments of various syndromes characterized by tapetoretinal degenerations are described. It is hoped that the gathering together of this information in one source will acid in the future understanding of metabolically based eye disease.

Adolescent↗
PubMed1987

Fragile X syndrome.

The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists because of its unusual inheritance pattern involving nonpenetrant males. This syndrome has also spearheaded an appreciation of cytogenetic abnormalities in the etiology of all degrees of developmental delay.

Abnormalities, Multiple↗
PubMed1995

Familial syringomyelia: case report and review of the literature.

BACKGROUND: Syringomyelia is an uncommon disease of the spinal cord, occurring sporadically. However, rare familial cases with autosomal dominant or recessive inheritance patterns are reported and their incidence quoted as approximately 2%. Only one previous report originated from the United States. METHODS: We present a brother and sister with syringomyelia and associated Chiari type I malformation; both patients responded to surgical treatment. We review the world literature and briefly discuss pathogenetic theories of syringomyelia as well as the relevance of the histocompatibility leukocyte antigen profile. RESULTS: Both genetic and environmental factors appear to be involved in familial syringomyelia. CONCLUSION: We recommend that close relatives of patients affected with familial syringomyelia undergo routine neurologic and radiologic surveys.

Adult↗
PubMed1992

Use of family history in a screening clinic for familial ovarian cancer.

We have estimated the risks of ovarian and other types of cancer in first-degree relatives of women who have developed the disease (the index patients). The number of deaths from each type of cancer was determined from pedigrees taken from 391 self-referred, asymptomatic women attending a screening clinic for familial ovarian cancer. These values were compared with the expected number of deaths for women in the general population (calculated from life tables), and the relative risks were used to estimate lifetime risks. The overall relative risk were 4.5, 1.4, 1.3, and 1.1 for ovarian, stomach, breast, and endometrial cancers, respectively. The risks were invariably higher if the index patient was < 55 years old. Ovarian cancer appeared to have no clear inheritance pattern in 290 pedigrees and there was no increased risk for the first-degree relatives. Eighty-two pedigrees were compatible with a diagnosis of a multiple-site cancer family syndrome and the relative risks were 6.1, 2.8, 3.7, and 2.7 for ovarian, breast, stomach, and colorectal cancer, respectively. There was evidence of site-specific ovarian cancer in 19 families; the relative risk for the first-degree relatives was 39.1 and the lifetime risk 1 in 2. We believe that family history can be used to identify women who are at a high risk of developing ovarian and certain other types of cancer. This information can be used to counsel women attending ovarian cancer screening clinics and to maximize the usefulness of current resources.

Female↗