[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 481-484, 2021 May 10.
Article
en Zh
| MEDLINE
| ID: mdl-33974261
OBJECTIVE: To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature. METHODS: Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software. RESULTS: The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4). CONCLUSION: The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hipofosfatasia
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China