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Haploinsufficiency of the short stature homeobox gene SHOX has been found in patients with idiopathic short stature (ISS) and Leri‐Weill dyschondrosteosis (LWD). In addition to complete gene deletions and nonsense mutations, several missense mutations have been identified in both patient...
Availability of high quality SNP data is a rate‐limiting factor in understanding the impact of genetic variability on gene function and phenotype. Although global projects like HAPMAP generate large numbers of SNPs in an even spacing throughout the human genome, many variation studies have a...
This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X‐linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection...
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene...
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7‐dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred...
Mutations in the Tyrosinase gene (TYR, 11q14–q21) cause oculocutaneous albinism type 1 (OCA1). The 3′‐region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase‐Like Gene (TYRL, 11p11.2–cen). A large number of publicly available nucleotide variants of TYR in...
In supplementation of previously published cardiac sodium channel (SCN5A) gene mutations that were cited in the text, in Table 2 and in Figure 2 we here apply an updated gene mutation nomenclature (Human Genome Variation Society, 2005) to facilitate mutation annotation comparison (SCN5A cDNA...
Alzheimer disease (AD), vascular dementia, and stroke are all associated with inflammation though their respective initiating factors differ. Recently a polymorphism in the proinflammatory cytokine tumor necrosis factor (TNF), in association with apolipoprotein E (APOE), was reported to increase...
Niemann‐Pick disease type C (NPC), a severe neurovisceral lysosomal disorder, is due to mutations on the NPC1 gene or, in a minority of families, the NPC2 gene. Few investigations have been devoted to the NPC2 protein, for which only 13 different disease‐causing mutations (including three...
We investigated 10 unrelated Chinese patients with type 2 Gaucher disease and performed ex vivo expression for the novel mutations to characterize their functional defects. These patients were diagnosed by enzymatic assays and clinicopathologic features over the past five years in a national...
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