摘要:

Six patients with the ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly‐ and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene‐carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe dis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03093.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The immunoreactivity of apolipoprotein B (apo B) in plasma obtained from 238 unrelated black African male subjects from the People's Republic of Congo was analysed by non‐competitive Enzyme Linked‐Immunosorbent Assay (ELISA) with monoclonal BIP 45 anti‐LDL antibody. The polymorphism detected by BIP 45 monoclonal antibody is identical to the Ag(c,g) polymorphism. Antibody BIP 45 distinguishes three apo B allotypes (immunopheno‐types) encoded by the two allelic genes apo B Ag(c) and apo B Ag(g). Because of co‐dominant transmission, genotypes may be inferred from allotypes, and it has been shown that BIP 45 binds strongly to the Ag(c) factor and only weakly to the allelic Ag(g) factor. Analysis of the Congolese plasma samples indicated that 67.65% of them bound BIP 45 with low affinity (Ag(c‐,g+) genotype), 28.15% with intermediate affinity (Ag(c+,g+) genotype) and 4.20% with high affinity (Ag(c+,g‐) genotype). According to the Hardy‐Weinberg equilibrum, this corresponds to gene frequencies of 0.817 and 0.183 for the type Ag(g)/Ag(c) alleles, respectively. After adjustment for age and body‐mass index, it was found that the Ag(c) allele decreases the apo B level by 9.62 mg/dl and that the Ag(g) allele increases apo B by 0.43 mg/dl. Therefore, as much as 4.30% of the genetic variance for apo B level could be accounted for by the A

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03094.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with ACS III (Saethre‐Chotzen syndrome), 5 of them severely. Clinical features of the patients are presented with regard to differential diagnostic delineation

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03095.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

One hundred and sixty‐three healthy Chinese subjects of both sexes were studied for serum paraoxonase (PON) polymorphism, and levels of lipids and apolipoproteins in order to examine effects of PON alleles on these parameters. The level of serum triglyceride was significantly higher in high activity allele (PON*B) compared with that in low activity allele (PON*A) in both sexes (P<0.01). The subjects with PON A had significantly higher LDL cholesterol (P<0.05) and lower Apo A‐II and ApoB levels. The influence of serum paraoxonase on serum lipids was estimated further by Spearman's rank correlation. In the males, there was a significant negative correlation of serum paraoxonase activity with total (P<0.05) and LDL (P<0.01) cholesterol levels, and positive correlation with HDL cholesterol and Apo A‐II levels (P<0.05). Serum paraoxonase activity had a high positive correlation with serum triglyceride levels in both sexes (P<0.001). Serum ApoB level had a positive correlation with the enzyme activity only in females (P<0.01). The allelic effect ofPONon these parameters was studied by multiple regression analysis. The high activity allele (PON*B) was associated with higher serum triglyceride level (P<0.001) and ApoB (P<0.001), while it had lowering influence on total cholesterol (P<0.05) and LDL cholesterol (P<0.005) in men. The average allelic effect ofPONwas found to be about 22% for serum triglycerides, 11% for LDL cholesterol, 14% for Apo A‐II and 19% for Apo B in the present study. This study suggests a possible significant role of serum paraoxonase alleles in the metabolism of serum lipids and apolipop

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03096.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

MCAD is the commonest inherited disorder of fatty acid oxidation. We have sought for and studied 21 affected children from 18 families within the UK. In 14 families the children are homozygous for the G985 mutation. In three families the children are compound heterozygotes for G985 and thus carry another and unknown mutation. In one family the child does not carry the G985 mutation on either allele. The carrier incidence of the G985 mutation is 1 in 68, which suggests that the natural history of MCAD deficiency deserves further study.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03097.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Sixty‐eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in DNA polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3′ HVR, HMJ1, EKMDA, GGG1, 26–6, VK5B, 218EP6, 24.1, CR1090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3′ HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGG1, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty‐nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, DNA analysis predicted one individual as being affected and the other u

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03098.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Cystic fibrosis (CF) is an autosomal recessive disorder with a prevalence at birth estimated at 1/2000–1/2500 livebirths in Caucasian populations. Some 127 CF individuals are known in Saguenay‐Lac‐St‐Jean (SLSJ), a geographically isolated region of Quebec. The prevalence at birth was estimated at 1/902 live borns, and the carrier rate was estimated at 1/15 inhabitants in the SLSJ region. The mean inbreeding coefficient was only slightly elevated in the CF group compared with three control groups, and was due to remote consanguinity. The mean kinship coefficient was 2.4 times higher in the CF group than in the control groups. In SLSJ region, the places of origin of the CF individuals and their parents did not show a clustered nonuniform distribution. Endogamy was not higher in the CF group than in control

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03099.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Otological, ophthalmological and genetic studies were performed in 46 patients with Usher syndrome, identified through a screening program in Colombia. Of them, 69.6% had Usher syndrome type I, 26.1% type II, and 4.3% type III. Thirty‐three patients showed profound deafness (71.7%), while 13 (28.3%) had moderate to severe hearing loss. The ophthalmologic manifestations showed marked variability. Although the majority of the patients had serious ocular impairment before age 20. 32.6% had good central visual acuity. The prevalence of Usher syndrome in Colombia, estimated at 3.2/100000, warrants the implementation of screening programs in schools for the deaf and for the blind. Our study confirms that Usher syndrome shows no geographic or racial variation and that the disorder has a wide variability of expression and genetic heterogeneity. The large size of the families we have detected may provide important opportunities for further genetic studies, particularly in terms of the assignment of the locus and gene mappin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03100.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A 15‐year‐old girl is described with brachyolmia. She presented with short‐trunked dwarfism, hypolordosis of the lower spine and radiological features of the disease. She was initially considered to have a mucopolysaccharidosis (type III Sanfilippo) on account of a pathological urinary glycosaminoglycan excretion pattern. The amount of urinary glycosaminoglycans was normal, but we found an increased amount of an undersulphated chondroitin sulphate molecule. Our finding of an undersulphated glycosaminoglycan points to a disturbance in chondroitin sulphate synthesis, and it is rare that a defect in glycosaminoglycan synthesis leads to a skeletal dysplasia. To our knowledge, this is the second case of brachyolmia with a possible defect in chondroitin sulphate‐sulphotran

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03101.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Two members of a consanguineous Japanese family with a clinical picture of aspartylglycosaminuria (AGU) are described. Both patients exhibited mental retardation, coarse facial features, angiokeratoma and myoclonic seizures. Biochemical studies showed elevated excretion of urinary sialyloligosaccharides and decreased activity of aspartylglycosaminidase in lymphoblasts. Morphologic studies of skin biopsy specimens showed many clear vacuoles mainly in the vascular endothelial cells and secretory cells of the sweat glands. Osmiophilic lamellar cytoplasmic inclusions were also noted in the ganglion cells in rectal biopsy. The ethnic distribution of AGU may be more widespread than previously suspected and appears not to be restricted to Finnish populations. Ours are the first Japanese patients diagnosed as AGU. We conclude that AGU should also be included in the differential diagnosis of mentally retarded patients in Asian countries.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb03102.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY