A case of Antley-Bixler syndrome caused by novel POR mutations.
10.3760/cma.j.issn.1003-9406.2019.10.019
- Author:
Can PENG
1
;
Chengzi HUANG
;
Hu TAN
;
Lingqian WU
Author Information
1. Center of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410000, China. wulingqian@sklmg.edu.cn.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
genetics;
Antley-Bixler Syndrome Phenotype;
genetics;
Child, Preschool;
Cytochrome P-450 Enzyme System;
genetics;
Female;
Humans;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(10):1025-1027
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child affected with multiple malformations.
METHODS:Genomic DNA was extracted from peripheral blood samples from the child and her parents. Tro whole exome sequencing and bioinformatics analysis were carried out. Suspicted mutations were verified by PCR and Sanger sequencing.
RESULTS:The patient, a 2-year-old girl, presented with multiple malformations including dysmorphism, skeletal malformations and ambigulous genitalia. Through genetic testing, she was diagnosed with Antley-Bixler syndrome caused by compound heterozygous mutations of the POR gene (c.919G>T and c.1615G>A), which were derived from her mother and father, respectively.
CONCLUSION:The compound heterozygous mutations of the POR gene probably underlie the Antley-Bixler syndrome in this patient.
