Intragenic duplication of <i>PHEX</i> in a girl with X-linked hypophosphatemia: a case report with review of literature-Reference-Cited by-同舟云学术

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Intragenic duplication of <i>PHEX</i> in a girl with X-linked hypophosphatemia: a case report with review of literature

Published:2025 Issue:4 Volume:72 Page:413-419
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Akiba Kazuhisa¹²³^ORCID,Matsubara Keiko¹³^ORCID,Hattori Atsushi¹³^ORCID,Fukami Maki¹^ORCID

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan

3. Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

Funder

National Center for Child Health and Development

Takeda Science Foundation

The Japan Endocrine Society

Publisher

Japan Endocrine Society

Link

https://www.jstage.jst.go.jp/article/endocrj/72/4/72_EJ24-0355/_pdf

Reference29 articles.

1. 1 The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 11: 130–136.

2. 2 Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, et al. (2022) Novel PHEX gene locus-specific database: comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Hum Mutat 43: 143–157.

3. 3 Carrel L, Willard HF (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434: 400–404.

4. 4 Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K (2012) Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. J Hum Genet 57: 453–458.

5. 5 Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, et al. (2019) Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 121: 212–220.

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