Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis.
- VernacularTitle:新生儿遗传性球形红细胞增多症ANK1基因新突变一例
- Author:
Min JIANG
1
;
Jie LU
;
Yan ZHONG
;
Yajuan WANG
;
Caiyun YANG
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Ankyrins; genetics; Base Sequence; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; diagnosis; genetics; Molecular Sequence Data; Mutation; Spherocytosis, Hereditary; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2016;33(1):44-47
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the disease-causing mutation in a newborn with hereditary spherocytosis.
METHODSGenomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.
RESULTSAn insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.
CONCLUSIONThe hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.
