[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]

Autor:	Jie, Li, Peiwen, Xu, Sexin, Huang, Ming, Gao, Yang, Zou, Ranran, Kang, Yuan, Gao
Rok vydání:	2017
Předmět:	Adult Male Base Sequence RNA Splicing DNA Mutational Analysis Molecular Sequence Data Genetic Diseases X-Linked Exons Middle Aged PHEX Phosphate Regulating Neutral Endopeptidase Pedigree Young Adult Mutation Humans Female Familial Hypophosphatemic Rickets
Zdroj:	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(2)
ISSN:	1003-9406
Popis:	To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.A splicing site mutation, IVS21+2TG, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.The novel splicing mutation IVS21+2TG of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::561e7a8837c0e132c00adece08b26e20 https://pubmed.ncbi.nlm.nih.gov/28397222 Zobrazit plný text záznamu