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

Ying Xie¹Yumei Yang¹Sha Luo²Xin Zou³Shuying Lv⁴Meijiao Du¹Yonglong Xu¹Xiaojuan Song⁵Changjie Qi⁵Nuo Li^6*Ding Quan Yang^6*

• ¹Beijing University of Chinese Medicine, Beijing, China
• ²The First Hospital of Hunan University of Chinese Medicine, Changsha, Hunan, China
• ³Dalian University of Foreign Languages, Dalian, Liaoning Province, China
• ⁴Capital Medical University, Beijing, Beijing Municipality, China
• ⁵Eighth Medical Center of the General Hospital of the Chinese People's Liberation Army, Beijing, Beijing, China
• ⁶China-Japan Friendship Hospital, Beijing, Beijing Municipality, China

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.736T>A (paternal). These compound heterozygous mutations are responsible for the ARWH phenotype. Conclusion: The compound heterozygous mutations c.1101del and c.736T>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.