Analysis of ALPL gene variant in a patient with infantile hypophosphatasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 481-484, 2021.
Article
em Zh
| WPRIM
| ID: wpr-879608
Biblioteca responsável:
WPRO
ABSTRACT
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:
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Índice:
WPRIM
Assunto principal:
Genômica
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Fosfatase Alcalina
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Sequenciamento de Nucleotídeos em Larga Escala
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Sequenciamento do Exoma
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Hipofosfatasia
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article