Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations: A Case Report

July 2025 in “ Frontiers in Medicine ”

Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Yonglong Xu, Xiaojuan Song, Cancan Qi, Nuo Li, Dingquan Yang

LIPH gene autosomal recessive woolly hair hypotrichosis frameshift mutation

TLDR Mutations in the LIPH gene cause woolly hair in a child.

The case report identifies compound heterozygous mutations, specifically c.1101del and c.736 T > A, in the LIPH gene as the cause of autosomal recessive woolly hair in a child. The c.1101del mutation is a newly discovered frameshift mutation, expanding the known mutation spectrum associated with LIPH-related autosomal recessive woolly hair and hypotrichosis.

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