A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family

Brachydactyly is a hereditary disease characterized by malformation of finger(s)/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on Chromosome 20, appeared in all the brachydactyly patients, […]

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Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

Individuals with X-linked hypohidrotic ectodermal dysplasia (XLHED) lack a normal sweat response, placing them at life-long risk for severe overheating. This study reports on the use of non-invasive technologies for assessing sweat gland function, and correlated the results with the nature and location of EDA gene defects underlying XLHED. In contrast to previous reports on […]

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Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

In this study conducted in Australia and the United Kingdom, we estimated that about 18% of people with a CDKN2A mutation would develop melanoma by the age of 50 years, and about 50% would develop melanoma by age 80 years. These lifetime risks are substantially higher than the risk of melanoma for the general population. […]

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A homozygous nonsense mutation (c.214C>A) in biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

Many liver diseases are accompanied by yellow jaundice due to impaired elimination of bilirubin, which is generated from biliverdin through biliverdin reductase activity. Two cases of unrelated Inuit women from different geographic areas in Greenland suffering from episodes of green jaundice due to biliverdin accumulation associated with biliary obstruction are reported. A mutation in the […]

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A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations

Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting 1 in 2500 individuals. Many individuals are mildly affected but a third of affected individuals unfortunately may develop one or more of the serious complications in their lifetime. One such complication is a benign tumour of the nerve to the eye (optic pathway glioma (OPG)) […]

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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

Neurofibromatosis type 2 (NF2) is caused by mutations in the NF2 gene. Around half of NF2 patients in various studies have been shown to have meningiomas, although the factors determining which individuals will develop meningiomas are unclear. We analysed the correlation between incidence of cranial meningiomas and mutation position within the NF2 gene in 411 […]

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DICER1 syndrome – clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome

Dicer1 is essential in the production of microRNAs and germline DICER1 mutations have been reported to cause familial pleuropulmonary blastoma (PPB), a rare childhood lung tumor.  Our work defines the phenotype associated with this gene; sporadic and familial PPB, cystic nephroma, ovarian Sertoli-Leydig tumor and cystic thyroid disease.  There was no loss of the wildtype […]

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Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general pediatric population

Chordoma is an age-dependent bone cancer that is rare in children. Reports of chordoma in children with TSC, an autosomal dominant neurocutaneous syndrome, suggest a biological relationship between the two diseases.  We compared 10 children reported with TSC and chordoma to 65 pediatric chordoma cases reported to 17 US population-based cancer registries in SEER. The […]

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Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Lymphoedema is swelling of parts of the body due to a failure of the lymph vessels. The lymph system takes up fluid from the tissues, and transports cells that fight against infection round the body. This paper describes the identification of a gene which can cause lymphoedema. A newly developed technique known as whole exome […]

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GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare immunodeficiency causing insufficient defence of the child or infant from infections, through defective killing of virus-infected and stimulating dendritic cells. The clinical picture resembles leukemia; final diagnosis comes from specific immune tests and mutation analysis. Among FHL-related genes recognized since 1999, UNC13D is responsible for a wide proportion […]

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