Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene.
10.19746/j.cnki.issn.1009-2137.2022.02.039
- Author:
Yu-Mei QIN
1
;
Lin LIAO
1
;
Xue-Lian DENG
1
;
Jian HUANG
1
;
Hong-Ying WEI
2
;
Fa-Quan LIN
3
Author Information
1. Department of Clinical Laboratory Examination， The First Affiliated Hospital of Guangxi Medical University, Nanning 530021， Guangxi Zhuang Autonomous Region, China.
2. Department of Pediatrics， The First Affiliated Hospital of Guangxi Medical University, Nanning 530021， Guangxi Zhuang Autonomous Region, China.
3. Department of Clinical Laboratory Examination， The First Affiliated Hospital of Guangxi Medical University, Nanning 530021， Guangxi Zhuang Autonomous Region, China,E-mail：fqlin1998@163.com.
- Publication Type:Journal Article
- Keywords:
SPTB gene;
hereditary spherocytosis;
new mutation;
prenatal diagnosis
- MeSH:
Female;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Infant, Newborn;
Male;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Spectrin/genetics*;
Spherocytosis, Hereditary/genetics*
- From:
Journal of Experimental Hematology
2022;30(2):552-558
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the clinical and genetic characteristics of a family with hereditary spherocytosis (HS), to clarify the cause of the disease, and to provide the basis for genetic counseling and prenatal diagnosis.
METHODS:The clinical data of proband and his parents were collected, and HS-related pathogenic genovariation of the proband was detected by high throughput sequencing. Suspected pathogenic mutation sites were verified by PCR-Sanger sequencing, and the fetus were conceived by a proband mother underwent prenatal diagnosis.
RESULTS:Clinical manifestations of the proband showed moderate anemia, mild splenomegaly, and jaundice (an indirect increase of bilirubin). The gene detection showed that the proband showed compound heterozygous mutations of SPTB gene c. 6095T > C (p.Leu2032Pro) and c. 6224A > G (p.Glu2075Gly), which was inherited from the asymptomatic mother and father, respectively. Both mutations were detected rarely in the common population. Prenatal diagnosis revealed that the fetus inherited a mutant gene of the mother.
CONCLUSION:The compound heterozygous mutations of SPTB genes c.6095T>C (p.Leu2032Pro) and c.6224A>G (p.Glu2075Gly) were the causes of the family disease, which provides a basis for family genetic counseling and prenatal diagnosis. This report is the first one found in the HGMD,1000G and EXAC database, which provides an addition to the mutation profile of the SPTB gene.
