Mutation analysis of the ABCA12 gene in two families with autosomal recessive congenital ichthyosis
10.3760/cma.j.issn.0412-4030.2018.10.007
- VernacularTitle:先天性常染色体隐性遗传性鱼鳞病两家系ABCA12基因突变分析
- Author:
Tingting LIU
1
;
Fadeng YANG
;
Zhimiao LIN
;
Huijun WANG
;
Linghan HU
;
Weilong ZHONG
;
Yong YANG
Author Information
1. 100034,北京大学第一医院皮肤科
- Keywords:
Ichthyosis;
DNA mutational analysis;
High-throughput nucleotide sequencing;
Autosomal recessive congenital ichthyosis;
ABCA12 gene;
Multi-gene array for genetic dermatology;
Compound heterozygous mutation
- From:
Chinese Journal of Dermatology
2018;51(10):737-740
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect mutations of the ABCA12 gene in 2 Chinese families with autosomal recessive congenital ichthyosis (ARCI).Methods According to the typical clinical manifestations,two probands were diagnosed with ARCI.DNA was extracted from the peripheral blood samples collected from the patients and their parents.High-throughput sequencing was conducted by using multi-gene array for genetic skin disorders to determine mutation sites in the probands,and then DNA isolated from the probands and their parents were bidirectionally verified by Sanger sequencing.Results Two compound heterozygous mutations (c.2759A＞G and c.7004A＞G) in the ABCA12 gene were found in the proband 1,and another two compound heterozygous mutations (c.6163_6164insT and c.7406G＞A) were identified in the proband 2.The parents of the two probands were heterozygous carriers of one of the two mutations in the ABCA12 gene.Function prediction for the 4 mutations showed that all of the 3 missense mutations (c.2759A＞G,c.7004A＞G and c.7406G＞A) may exert pathogenic effect,and fragnin encoded by the frameshift mutation c.6163_6164insT may also affect protein function,c.2759A＞G and c.6163_6164insT were newly identified mutation sites.Conclusion The compound heterozygous mutations in the ABCA 12 gene are the causative mutations responsible for ARCI in the two probands of the two pedigrees.
