A case of autosomal recessive hypotrichosis type 7 and literature review

Abstract

Objective To report a case of autosomal recessive hypotrichosis type 7, and to discuss the mutations of LIPH gene in this family. Methods The clinical data of the case were collected. The genomic DNA was extracted from the peripheral blood of the patient and her parents. The high-throughput sequencing method was used to detect the sequence mutations of each exon in the coding region of all genes, and the gene mutation sites were determined. The mutant genes were verified by PCR-Sanger sequencing and bioinformatics analysis. Results The patient had a compound heterozygous mutations of LIPH gene c.409C>T (p.Gln137*) in exon 2 and c.742C>A (p.His248Asn) in exon 6, which were from the patient's father and mother, respectively. c.409C>T (p.Gln137*) had not been reported before. The results of bioinformatics analysis showed that the 137th Gln sequence and 248th His sequence of LIPH protein were highly conserved in multiple species. The structures of the corresponding proteins were altered after the mutation of the two sites compared to wild-type proteins, and the two mutations were suspected to be pathogenic mutations according to ACMG guidelines. Conclusion The compound heterozygous mutations of LIPH gene c.409C>T (p.Gln137*) in exon 2 and c.742C>A (p.His248Asn) in exon 6 are the cause of autosomal recessive hypotrichosis type 7 in this case.

Keywords

• hereditary hypotrichosis
• autosomal recessive
• liph gene