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Article

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.

The Journal of clinical endocrinology and metabolism - 28 Sept 2022

Alhamoudi Kheloud M, Alghamdi Balgees, Alswailem Meshael, Nasir Abdul, Aljomaiah Abeer, Al-Hindi Hindi, Alzahrani Ali S

Abstract excerpt

CONTEXT: Synonymous mutations are usually nonpathogenic. OBJECTIVE: We report here a family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant with a unique mechanism. METHODS: We studied a 4-member family (a mother, a son, and 2 daughters), all affected with XLH. Genomic DNA was extracted from peripheral leucocytes. Whole exome sequencing (WES) was used to identify the underlying genetic...

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Identifiers

PMID: 35896147
DOI: 10.1210/clinem/dgac435

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