RRM2B is a nuclear gene that encodes p53R2, a protein required for synthesising mitochondrial DNA (mtDNA). Accumulation of multiple mtDNA deletions in muscle and other tissues is a relatively frequent cause of mitochondrial disease in adults. Multiple mtDNA deletions arise because of faulty mtDNA replication, and we now show that 4% of 50 patients seen […]
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory […]
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
CHARGE syndrome involves multiple congenital anomalies caused by mutations in the CHD7 gene. In our study, we evaluated the clinical characteristics of 280 patients with CHD7 mutations and confirmed that the clinical presentation is highly variable. Even family members, who all had the same mutation, were variably affected. We also report some individuals who have […]
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, […]
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 […]
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. […]
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 […]
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)) […]
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 […]
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 […]