关键词: 鳞癣, DNA突变分析, 移码突变, 火棉胶样儿, ALOX12B, 复合杂合突变

Abstract: 【Abstract】 Objective To investigate pathogenic genes and genetic 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 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. Conclusion The infant was diagnosed with hereditary ichthyosis, which was inherited in an autosomal recessive manner. The missense mutation c.1405C>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.

Key words: Ichthyosis, DNA mutational analysis, Frameshift mutation, Collodion baby, ALOX12B gene, Compound heterozygous mutation