A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
Endocr Metab Immune Disord Drug Targets
; 23(9): 1235-1239, 2023.
Article
em En
| MEDLINE
| ID: mdl-36847234
ABSTRACT
BACKGROUND:
X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked hypophosphatemia is a loss-of-function mutation in the PHEX gene (Phosphate regulating gene with Homology to Endopeptidases on the X chromosome), which leads to an enhanced production of phosphaturic hormone FGF23. X-linked hypophosphatemia causes rickets in children and osteomalacia in adults. Clinical manifestations are numerous and variable, including slowdown in growth, swing-through gait and progressive tibial bowing, related to skeletal and extraskeletal actions of FGF23. PHEX gene spans over 220 kb and consists of 22 exons. To date, hereditary and sporadic mutations are known (missense, nonsense, deletions and splice site mutations). CASE PRESENTATION Herein, we describe a male patient carrying a novel de novo mosaic nonsense mutation c.2176G>T (p.Glu726Ter) located in exon 22 of PHEX gene.CONCLUSION:
We highlight this new mutation among possible causative of X-linked hypophosphatemia and suggest that mosaicism of PHEX mutations is not so uncommon and should be excluded in diagnostic workflow of heritable rickets both in male and female patients.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Raquitismo Hipofosfatêmico Familiar
/
Raquitismo Hipofosfatêmico
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Endocr Metab Immune Disord Drug Targets
Assunto da revista:
ALERGIA E IMUNOLOGIA
/
ENDOCRINOLOGIA
/
METABOLISMO
/
TERAPIA POR MEDICAMENTOS
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália