Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene.
10.3760/cma.j.cn511374-20200820-00615
- VernacularTitle:ASPM基因变异所致的常染色体隐性遗传原发性小头畸形5型家系的诊断及遗传咨询
- Author:
Yan ZHANG
1
;
Lina ZENG
;
Li LIN
Author Information
1. Center of Prenatal Diagnosis, The Affiliated Hospital of Putian College, Putian, Fujian 351100, China. zhangyanyan840821@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Counseling;
Female;
Humans;
Microcephaly;
Mutation;
Nerve Tissue Proteins/genetics*;
Pedigree;
Pregnancy
- From:
Chinese Journal of Medical Genetics
2022;39(4):405-408
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential mutation of the ASPM gene in a Chinese pedigree affected with autosomal recessive primary microcephaly 5 (MCPH5).
METHODS:Peripheral venous blood samples were collected from the proband and her parents. Amniotic fluid sample was also collected upon her mother' s subsequent pregnancy. Following extraction of genomic DNA, PCR and Sanger sequencing were carried out to identify potential variants of the ASPM gene.
RESULTS:The proband was found to harbor compound heterozygous variants of the ASPM gene, namely c.8214dupT (p.Q2739fs) in exon 18 and c.9541C>T (p.R3181X) in exon 23, which were respectively inherited from her father and mother. The fetus has found to have inherited the c.9541C>T (p.R3181X) variant only.
CONCLUSION:The c.8214dupT (p.Q2739fs) and c.9541C>T (p.R3181X) compound heterozygous variants of the ASPM gene probably underlay the pathogenesis of MCPH5 in this patient. Above finding has enabled genetic counseling and prenatal diagnosis for her family.
