![]() ![]() Endocrinol Diabetes Nutr (Engl Ed) 67:70–71. īroseta JJ, López-Romero LC, Cerón JA, Mendizábal S, Hernández-Jaras J (2020) Mosaicism in 2 cases of X-linked hypophosphatemia. Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK (2018) A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets. Weng C, Chen J, Sun L, Zhou ZW, Feng X, Sun JH, Lu LP, Yu P, Qi M (2016) A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. Ĭlausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F (2009) Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets. Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M (2006) Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W (2019) Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Lin Y, Xu J, Li X, Sheng H, Su L, Wu M, Cheng J, Huang Y, Mao X, Zhou Z, Zhang W, Li C, Cai Y, Wu D, Lu Z, Yin X, Zeng C, Liu L (2020) Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia. Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M, Alitalo T (2000) Identification of fifteen novel PHEX gene mutations in finnish patients with hypophosphatemic rickets. Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. ![]() Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO (2001) Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. Our report also alerts clinicians and geneticists to be cautious about mocaicism and detection methods. Our report adds an unusual mocaicism case for XLH and expands the mutational event and spectrum of PHEX gene. This XLH girl has a de novo mosaic genotype of c.1809 = /G > T/G > A in PHEX gene. This is the first case to report two different mosaic variants of PHEX gene in an XLH individual. Subsequent Sanger sequencing confirmed the presence and de novo pattern of these two mosaic variants in the proband, which were absent in her healthy parents. Interestingly, two different pathogenic mosaic variants, a known c.1809G > A(p.W603*) variant and a novel c.1809G > T(p.W603C) variant within the same site of PHEX gene, were identified in the proband by WES. To rapidly screen all of the causative genes of hypophosphatemic rickets and rule out other diseases, DNA samples were initially analyzed using whole exome sequencing (WES). Here we describe an XLH girl with two de novo mosaic variants within the same site of PHEX gene. As at least several thousands of XLH patients have been diagnosed, only several males and fewer females with mosaicism of PHEX gene were found. X-linked hypophosphatemic rickets (XLH) is the most common form of hypophosphatemic rickets, which is caused by the deficiencies of PHEX gene with an X-linked dominant inheritance pattern. ![]()
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