Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report.

Objective: To report the clinical characteristics of a case of Autosomal recessive woolly hair/ hypotrichosis(ARWH/HT, OMIM:278150/604379) in a child, analyze and identify the causative gene and mutation site. A review of related research at home and abroad was conducted to summarize the current progress in the diagnosis and treatment of ARWH.

Methods: Clinical data were collected, and exome sequencing was performed on blood samples from the patient and parents to screen for mutations. Sanger sequencing validated suspected pathogenic variants. A summary analysis of previously published woolly hair cases was also conducted.

Results: The family was found to have mutations in the LIPH gene, with the patient's sample showing two heterozygous mutations: c.1101del (maternal) and c.736 T > A (paternal). These compound heterozygous mutations are responsible for the ARWH phenotype.

Conclusion: The compound heterozygous mutations c.1101del and c.736 T > A in the LIPH gene are the pathogenic mutations causing the clinical phenotype of autosomal recessive woolly hair in the child. The c.1101del mutation is a newly discovered frameshift mutation, enriching the mutation spectrum of LIPH-associated autosomal recessive woolly hair with hypotrichosis.