A novel mutation in the ALOX12B gene in hereditary ichthyosis: pedigree analysis for a female collodion baby
10.35541/cjd.20201135
- VernacularTitle:遗传性鱼鳞病ALOX12B基因的新型致病位点：1例火棉胶样女婴的家系分析
- Author:
Jia LIAN
1
;
Bei QIN
;
Qinfeng LI
Author Information
1. 天津市儿童医院皮肤科，天津 300074
- Keywords:
Ichthyosis;
DNA mutational analysis;
Frameshift mutation;
Collodion baby;
ALOX12B gene;
Compound heterozygous mutation
- From:
Chinese Journal of Dermatology
2022;55(7):599-602
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate pathogenic genes and inheritance patterns in 3 consecutive collodion babies in a family.Methods:The proband was diagnosed as a collodion baby due to extensive dry and chapped skin all over the body at birth. Phenotypes of the proband's parents were normal, but their first and second children presented with dry and chapped skin at birth and died a few days after birth. DNA was extracted from peripheral blood samples of the patient and her parents for whole-exome capture sequencing, and candidate mutations were verified by Sanger sequencing.Results:Compound heterozygous mutations in the ALOX12B gene were identified in the infant, including a missense mutation c.1405 C>T (p.R469w) inherited from her father and a frameshift mutation c.68_69insC (p.L24fs) inherited from her mother.Conclusions:The infant was diagnosed with hereditary ichthyosis, which was inherited in an autosomal recessive manner. The missense mutation c.1405 C>T and frameshift mutation c.68_69insC in the ALOX12B gene may contribute to the clinical phenotype of this infant, and the frameshift mutation had not been reported in China or other countries.
