title: De novo mutation of PHEX in a type 1 diabetes patient.
abstract: A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as hemizygous with the four female family members to be heterozygous genotypes. The discovery was made through the complete sequencing of the exons and the intron-exon boundaries of the PHEX gene of this family. The mutation caused the S141 residue to change to Phe from Ser which is perfectly conserved among humans, mice, rats, cows and chickens. PolyPhen-2 software analysis of the mutation indicated it was probably damaging. The proband was also diagnosed with type 1 diabetes (T1D) and the relationship between XLH and diabetes phenotypes was discussed in the paper.
authors.forename: Chen
authors.initials: C
authors.lastname: Fang
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Xiaozhen
authors.initials: X
authors.lastname: Li
authors.forename: Wenjin
authors.initials: W
authors.lastname: Xiao
authors.forename: Yun
authors.initials: Y
authors.lastname: Huang
authors.forename: Wu
authors.initials: W
authors.lastname: Cai
authors.forename: Yi
authors.initials: Y
authors.lastname: Yang
authors.forename: Ji
authors.initials: J
authors.lastname: Hu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D002417:Cattle; D002645:Chickens; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics*; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011379:Prognosis; D051381:Rats; D017422:Sequence Analysis, DNA / Q000379:methods; D017386:Sequence Homology, Amino Acid; D055815:Young Adult
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human