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PubMed1993

Hereditary protein S deficiency in a large New Jersey kindred.

PURPOSE: Protein S is a vitamin K-dependent anticoagulant protein that serves as a cofactor for activated protein C. Deficiency of protein S has been associated with recurrent thrombotic events. To characterize better the risks of thrombosis in protein S deficiency, we studied 62 members in a large kindred. METHOD: All members were evaluated by a thorough clinical history. Plasma samples were assayed for total protein S antigen and protein S activity. Upper and lower extremity venous duplex examinations were performed in the majority of adult members. RESULT: Twenty-six (40%) of the 62 family members were classified as deficient on the basis of either low total protein S antigen levels or low protein S functional activity. Five members deficient in protein S had 16 venous thrombotic events. In all members the onset of thrombotic events occurred after 19 years of age, with a tendency for recurrence. Three lower extremity deep venous thromboses that had been occult previously were first diagnosed on surveillance duplex scanning. Only one member whose protein S level was not deficient had a single episode of superficial thrombophlebitis. CONCLUSION: Our findings in this large kindred confirm an autosomal-dominant inheritance pattern. Thrombotic events occurred after the age of 19 years in affected individuals and tended to be recurrent. The diagnosis of protein S deficiency is based on functional and immunologic plasma assays. In this study venous duplex scanning proved to be a useful diagnostic adjuvant.

Adolescent↗
PubMed1978

Psoriasis and arthritic lesions in relation to the inheritance of HLA genotypes: a family study.

This family consists of forty-eight subjects, all of whom have been examined with regard to the presence of psoriasis and nearly all for the presence of arthritic lesions (sacroiliitis and peripheral arthritis). All the members have been tissue-typed not only for HLA-A, B and C locus products but also for D locus products. This has enabled us to study the entire HLA chromosomal region. In the family concerned we have found that those subjects haploidentical with the proband have, to a very large degree, either one or all clinical manifestations, which demonstrates a close genetic relationship between joint (especially sacroiliitis) and cutaneous manifestations. These findings prompt us to repeat our previously made proposal about different phenotypic expressions of the same genotype. In this family study the disease-associated haplotypes did not contain the genes for B13, 17 or 37 antigens which are known to occur frequently in psoriatic patients. However, not all psoriasis patients have these antigens. Despite that, we believe that the gene(s) which increase the likelihood of developing psoriasis are identical in all patients and therefore family studies where the proband does not carry the particular psoriasis associated B-alleles are equally illuminating as to the inheritance pattern of disease.

Adolescent↗
PubMed1993

[Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance].

We have studied three families who ancestors immigrated to North America from contiguous regions of northern Germany and southern Denmark. The pedigrees contain 77,206 and 376 individuals spanning 6, 7 and 8 generations with 7,7 and 11 affected members, respectively. Autosomal dominant inheritance pattern is present in two families and probable in the third. Typical L-dopa-responsive parkinsonism with bradykinesia, rigidity, resting tremor, and impaired postural reflexes uniformly develop in affected individuals from all three families. Further research on these three families, including genetic, pathologic and clinical examinations is planned.

Adult↗
PubMed1993

Study on the expression of ABH antigens on platelets.

We recently examined a case of refractoriness to HLA-matched, ABO-incompatible platelet transfusions. The transfused platelets that were rapidly cleared from the circulation of the recipient expressed an amount of B antigen more than 20 times that expressed by the blood group B platelets that were successfully transfused to the recipient. These observations led us to conduct enzyme-linked immunosorbent assay (ELISA) and immunoblotting studies of the amount of blood A and B antigens expressed on the surface of platelets from randomly selected donors. The donors were clearly classified, according to the amount of A or B antigen expressed on their platelets, into two phenotypes, the high-expression and low-expression phenotypes. By ELISA, 7% of the examined donors were determined as belonging to the high-expression phenotype of either A or B antigen. The high-expression phenotype was independent of secretor phenotype. In transferase activity assay, a donor with high expression of B had increased B transferase activity in her serum, which suggested that the high-expression phenotype might be under the control of the glycosyltransferase gene. Family studies showed a dominant inheritance pattern of the high-expression phenotype. This report provides evidence that the expression of ABH antigens on platelets is genetically determined and that the ABO group should be given some attention in platelet transfusions.

ABO Blood-Group System↗
PubMed1993

Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (NOD) mouse and human insulin-dependent diabetes mellitus (IDDM).

Common, familial human disorders generally do not follow Mendelian inheritance patterns, presumably because multiple loci are involved in disease susceptibility. One approach to mapping genes for such traits in humans is to first study an analogous form in an animal model, such as mouse, by using inbred strains and backcross experiments. Here we describe methodology for analyzing multiple-locus linkage data from such experimental backcrosses, particularly in light of multilocus genetic models, including the effects of epistasis. We illustrate these methods by using data from backcrosses involving nonobese diabetic mouse, which serves as an animal model for human insulin-dependent diabetes mellitus. We show that it is likely that a minimum of nine loci contribute to susceptibility, with strong epistasis effects among these loci. Three of the loci actually confer a protective effect in the homozygote, compared with the heterozygote. Further, we discuss the relevance of these studies for analogous studies of the human form of the trait. Specifically, we show that the magnitude of the gene effect in the experimental backcross is likely to correlate only weakly, at best, with the expected magnitude of effect for a human form, because in humans the gene effect will depend more heavily on disease allele frequencies than on the observed penetrance ratios; such allele frequencies are unpredictable. Hence, the major benefit from animal studies may be a better understanding of the disease process itself, rather than identification of cells through comparison mapping in humans by using regions of homology.

Animals↗
PubMed1993

S-cone function in patients with retinitis pigmentosa.

PURPOSE: To determine whether short-wavelength-sensitive (S-) cones are more severely damaged in patients with retinitis pigmentosa than long-wavelength-sensitive (L-) and middle-wavelength-sensitive (M-) cones. To determine whether there are differences in the amount of S-cone damage in patients with dominant versus nondominant inheritance patterns. To accomplish these goals with methods that provide information not furnished by previous studies with two-color increment thresholds. METHODS: Acuity mediated by the S-cones was measured in 56 patients with retinitis pigmentosa, and the electroretinogram (ERG) generated by the S-cones was measured in 11 of these patients. Mixed L- and M-cone acuity, mixed L- and M-cone ERGs, and clinical full-field rod and cone ERGs were obtained for all patients. Data for both dominant and nondominant patient groups were compared with data from age-matched normal subjects. RESULTS: Only the nondominant group had reduced S-cone acuity, and 43% of patients in this group had selective reduction of S-cone acuity. In this particular sample the dominant and nondominant groups were comparable in clinical full-field ERG parameters and mixed L- and M-cone acuity, so the difference in S-cone acuities is not due to the dominant group having less advanced retinal degeneration. All 11 patients tested had reduced S-cone ERGs, 6 with significantly greater loss in the S-cone ERG than in the mixed L- and M-cone ERG. CONCLUSIONS: These data provide evidence that retinitis pigmentosa can produce greater loss of S-cones than L- and M-cones, and that this selective loss is primarily seen in patients with nondominant forms of retinitis pigmentosa.

Adolescent↗
PubMed1993

[Familial dilated cardiomyopathy].

The author surveys the literature and gives a state of art of familial dilatative cardiomyopathy including his own experience. In the past two decades, III familial dilatative cardiomyopathy cases have been encountered in 30 families in their own material, which means a 21.5 percent incidence rate as concerns the total number of dilatative cardiomyopathy patients. The inheritance pattern was autosomal dominant in the majority of the cases. Both cardiomegaly (20 vs 29.6 ys) and the complaints (29.9 vs 37.6 ys) displayed an earlier onset in familial dilatative cardiomyopathy than in the nonfamilial form. The characters of the signs and symptoms did not differ otherwise between the two groups. Significant differences were observed between the two groups in the progression of the disease: the five-year survival rate after the onset of the symptoms was 23.1 percent in the familial cases and 52.1 percent in the non-familial form (p = 0.026).

Adult↗
PubMed1993

Gingival fibromatosis: study of three generations with consanguinity.

Familial gingival fibromatosis affecting six members among three generations of an Islamic family is reported. Clinical findings are reported and the inheritance pattern is discussed. Histopathologic examination of the excised tissue revealed mainly fibroblasts with prominent, rough-surfaced endoplasmic reticulum. Cells with vesicular nuclei, resembling mast cells, were also observed.

Adolescent↗
PubMed1995

Expression of the Von Hippel-Lindau tumor suppressor gene, VHL, in human fetal kidney and during mouse embryogenesis.

BACKGROUND: Von Hippel-Lindau (VHL) disease is a familial cancer syndrome that has a dominant inherited pattern which predisposes affected individuals to a variety of tumours. The most frequent tumors are hemangioblastomas of the central nervous system and retina, renal cell carcinoma (RCC), and pheochromocytoma. The recent identification and characterization of the VHL gene on human chromosome 3p and mutational analyses confirms the VHL gene functions as a classical tumor suppressor. Not only are mutations in this gene responsible for the VHL syndrome, but mutations are also very frequent in sporadic RCC. MATERIALS AND METHODS: VHL expression in human kidney and during embryogenesis, was analyzed by in situ mRNA hybridization with 35S-labeled antisense VHL probes, derived from human and mouse cDNAs, on cryosections of human fetal kidney and paraffin sections of murine embryos. RESULTS: In human fetal kidney, there was enhanced expression of VHL within the epithelial lining of the proximal tubules. During embryogenesis, VHL expression was ubiquitous in all three germ cell layers and their derivatives. Expression occurred in the cerebral cortex, midbrain, cerebellum, retina, spinal cord, and postganglionic cell bodies. All organs of the thoracic and abdominal cavities expressed VHL, but enhanced expression was most apparent in the epithelial components of the lung, kidney, and eye. CONCLUSIONS: In human fetal kidney, the enhanced epithelial expression of the VHL gene is consistent with the role of this gene in RCC. There is widespread expression of the VHL gene during embryogenesis, but this is pronounced in areas associated with VHL phenotypes. These findings provide a histological framework for investigating the physiological role of the VHL gene and as basis for further mutational analysis.

Animals↗
PubMed1995

[Familial malignant melanoma].

Approximately 8 to 12% of cases of malignant melanoma (MM) are estimated to be familial in foreign countries, but such familial MM (FMM) is rare in Japan. Eleven Japanese cases of FMM, including our 3 cases in a family, have been reported. Comparison studies have revealed that the mean age at the onset of FMM is younger than that of sporadic MM. However, it is difficult to exclude the effects of early recognition of MM by frequent examinations in FMM families. In the majority of the families, the propensity to MM is associated with the presence of atypical mole, so-called dysplastic nevus syndrome phenotype. The inheritance pattern for FMM is thought to be autosomal dominant with incomplete penetrance. Linkage studies have shown at least two FMM loci on chromosome 1p36 and 9p21, thus providing a support for genetic heterogeneity in FMM.

Age of Onset↗
PubMedDate not supplied

Genetics of gastric cancer.

Although the death rate from gastric carcinoma in the US and other western communities has decreased in recent times, a similar trend has not been noted in other countries, especially S.E. Asia. Upto 95% of all malignant gastric neoplasms are adenocarcinomata, but other types of gastric cancer have evoked considerable interest in the literature. Genetic factors have been suspected of playing a pivotal role in the etiology of gastric cancer but no clear inheritance pattern has emerged and environmental influences remain the focus of many current theories of pathogenesis. Current evidence implicates the non-random involvement of certain chromosomes and related oncogenes especially Ras and p53. Genes that may predispose to gastric cancer have not been clearly implicated but some studies indicate a familial aggregation of gastric cancer. The objective of this review is to reappraise the role of genetics in the etiology of gastric cancer with special reference to relevant information for practicing clinicians.

Animals↗
PubMed1977

Possible evidence for a new C-locus specificity: studies of the serum Pullium.

We have presented data from our own experience and from the first serum exchange of the HLA Workshop of the Americas that indicate the serum Pul may identify a new low-frequency specificity of the C locus. One informative family has been studied, and the results are consistant with a C-locus inheritance pattern. No correlation was found with antisera that identify known antigens of the A, B, or C locus. One additional serum, also available for study, seems to react with the same specificity as the serum Pul.

Adolescent↗
PubMed1995

Congenital hypodontia: a pedigree and dermatoglyphic study.

The dermatoglyphs and the pedigrees of 11 male and 10 female, a total of 21 patients with congenital hypodontia (CH) were investigated. The dermatoglyphics of the patients were compared with those of 250 male and 250 female control cases. There were more arches on the finger-tips of the patients with absence of the lateral incisors, absence of the second premolars and a total patients with CH. The patients with absence of the lateral incisors had more palmar ll and plantar lll loops and p triradii. The patients with absence of the second premolars had more H and H loops, P triradii and plantar ll loops. A total patients with CH had more palmar ll and plantar lll, IV loops and p and z triradii. The pedigrees of the patients with both absence of the lateral incisors and the second premolars showed that the inheritance patterns of both conditions would seem autosomal recessive.

Adolescent↗
PubMed1996

Factor V Quebec revisited.

Factor V Quebec has been described as a bleeding disorder that exhibits an autosomal dominant inheritance pattern and presents severe bleeding after trauma. Two members of a fourth-generation (IV.13 and IV.15) Canadian family have been studied in detail and are the subject of this report. Their clinical presentations and histories have been described previously (Tracy et al: J Clin Invest 74:1221, 1984). Persistent abnormalities include mild thrombocytopenia and defective platelet factor V. Plasma factor V is present at near normal concentration and is fully functional. Thus, the bleeding diathesis appears to reflect the absence of platelet factor V activity. The recent report (Hayward et al: Blood 84:110a, 1994 [suppl, abstr]) of multimerin deficiency in these individuals led us to reevaluate these patients. Western blot analyses of platelet lysates developed with a variety of monoclonal antibodies show that the alpha-granule proteins, fibrinogen, von Willebrand factor, factor V and osteonectin are decreased in concentration and significantly degraded in the platelets of these patients. Thrombospondin, while not degraded, is substantially decreased. In contrast, platelet factor 4 and beta-thromboglobulin do not appear to be affected. These observations suggest that the alpha-granules are correctly assembled but the contents are subsequently subjected to proteolytic degradation. The results indicate that factor V Quebec disorder is probably associated with a generalized defect that leads to degradation of most proteins of the alpha-granules.

Blood Proteins↗
PubMed1996

[3 children with velocardiofacial (Shprintzen) syndrome].

In three children, girls of 3, 8, and 12 years old, who attended or had attended public health care facilities, velocardiofacial syndrome was diagnosed. The most important symptoms are cleft palate, cardiac anomalies, characteristic facies (almond-shaped eyes, wide nose, small ears) and learning problems. The syndrome has an autosomal dominant inheritance pattern with a very variable expression. Using fluorescence in situ hybridisation, microdeletions of the long arm of chromosome 22 have been identified in 70% of the patients (22qII). Velocardiofacial syndrome should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, facial dysmorphism and/or conotruncal cardiac anomalies.

Abnormalities, Multiple↗
PubMed1996

The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.

We studied 20 individuals from 17 unrelated families with congenital dyserythropoietic anemia (type II; CDAII). The clinical phenotype was mild to moderate. The inheritance pattern was invariably recessive. Coomassie blue stained gels after sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) show that band 3 was thinner and migrated slightly faster than usual. In addition, staining showed two unknown minor bands (in the patients), but not in normal controls, the obligate carrier parents, or in patients with other anemic syndromes. These minor proteins were studied using partial digestion, amino acid sequencing, Western blotting, immunofluorescence, and immunogold electron microscopy. They were identified as the glucose-regulated protein GRP78 and calreticulin that are resident proteins of the endoplasmic reticulum (ER). Using specific antibody, we showed that protein disulfide isomerase (PDI), a third major protein of the ER, was also present on the SDS-PAGE of red blood cell (RBC) ghosts. Immunofluorescence colocalized PDI with the dense discontinuous ring decorating the RBC membrane. Immunogold electron microscopy showed that PDI was localized in the lumen of the cisternae, confirming that these originate from the smooth ER. From a practical point of view, screening the above minor proteins in RBC membranes appears to be a straightforward and reliable diagnostic test for CDAII.

Amino Acid Sequence↗
PubMed1996

Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.

We investigated the presence of the gene mutation of factor V, FV R506Q or factor V Leiden, responsible for activated protein C resistance, in DNA samples of 127 probands and 188 relatives from 128 families with antithrombin deficiency. The factor V mutation was identified in 18 families. Nine families were available to assess the mode of inheritance and the clinical relevance of combined defects. The factor V and antithrombin genes both map to chromosome 1. Segregation of the defects on opposite chromosomes was observed in three families. Co-segregation with both defects on the same chromosome was demonstrated in four families. In one family a de novo mutation of the antithrombin gene and in another a crossing-over event were the most likely explanations for the observed inheritance patterns. In six families with type I or II antithrombin deficiency (reactive site or pleiotropic effect), 11 of the 12 individuals with both antithrombin deficiency and the factor V mutation developed thrombosis. The median age of their first thrombotic episode was 16 years (range 0-19); this is low compared with a median age of onset of 26 years (range 20-49) in 15 of 30 carriers with only a defect in the antithrombin gene. One of five subjects with only factor V mutation experienced thrombosis at 40 years of age. In three families with type II heparin binding site deficiencies, two of six subjects with combined defects experienced thrombosis; one was homozygous for the heparin binding defect. Our results show that, when thrombosis occurs at a young age in antithrombin deficiency, the factor V mutation is a likely additional risk factor. Co-segregation of mutations in the antithrombin and factor V genes provides a molecular explanation for severe thrombosis in several generations. The findings support that combinations of genetic risk factors underly differences in thrombotic risk in families with thrombophilia.

Adolescent↗