Analysis of ALPL gene variant in a patient with infantile hypophosphatasia.
10.3760/cma.j.cn511374-20200414-00267
- VernacularTitle:一例婴儿型低磷酸酶血症
ALPL基因变异分析
- Author:
Yan CUI
1
;
Yingxian ZHANG
;
Dongxia FU
;
Xiaojing LIU
;
Haiyan WEI
Author Information
1. Department of Pediatric Endocrinology and Genetic Metabolism, the Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou Key Laboratory of Pediatric Endocrine, Genetic and Metabolism Diseases, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
- Publication Type:Journal Article
- MeSH:
Alkaline Phosphatase;
Child;
Female;
Genomics;
High-Throughput Nucleotide Sequencing;
Humans;
Hypophosphatasia/genetics*;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(5):481-484
- CountryChina
- Language:Chinese
-
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.
