A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
Calcif Tissue Int
; 111(6): 634-640, 2022 12.
Article
em En
| MEDLINE
| ID: mdl-35831717
ABSTRACT
X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. However, synonymous PHEX variants are rare in XLH. We report a 7-year-old boy with hypophosphatemia, short stature, and lower limb deformity. Whole-exome sequencing, reverse transcription-polymerase chain reaction, and Sanger sequencing were performed to identify the pathogenicity of the variant. A novel synonymous PHEX variant (NM_000444.4c.1530 C>T, p.Arg510Arg) was detected in the proband. Further analysis revealed a 58-bp deletion at the 5' site of exon 14 during splicing. This study extends the genetic spectrum of XLH and confirms the rarity and significance of synonymous PHEX variants.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteomalacia
/
Hipofosfatemia
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Doenças Genéticas Ligadas ao Cromossomo X
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Raquitismo Hipofosfatêmico Familiar
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Calcif Tissue Int
Ano de publicação:
2022
Tipo de documento:
Article