Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
ObjectiveTo 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 progr...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1563299/full |
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| author | Ying Xie Ying Xie Sha Luo Yumei Yang Xin Zou Shuying Lv Meijiao Du Meijiao Du Yonglong Xu Yonglong Xu Xiaojuan Song Changjie Qi Nuo Li Dingquan Yang |
| author_facet | Ying Xie Ying Xie Sha Luo Yumei Yang Xin Zou Shuying Lv Meijiao Du Meijiao Du Yonglong Xu Yonglong Xu Xiaojuan Song Changjie Qi Nuo Li Dingquan Yang |
| author_sort | Ying Xie |
| collection | DOAJ |
| description | ObjectiveTo 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.MethodsClinical 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.ResultsThe 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.ConclusionThe 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. |
| format | Article |
| id | doaj-art-12a3354ad71f4e3b80a77376cc319053 |
| institution | Kabale University |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-12a3354ad71f4e3b80a77376cc3190532025-08-21T12:37:30ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-07-011210.3389/fmed.2025.15632991563299Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case reportYing Xie0Ying Xie1Sha Luo2Yumei Yang3Xin Zou4Shuying Lv5Meijiao Du6Meijiao Du7Yonglong Xu8Yonglong Xu9Xiaojuan Song10Changjie Qi11Nuo Li12Dingquan Yang13Beijing University of Chinese Medicine, Beijing, ChinaDepartment of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, ChinaDepartment of Dermatology, The First Affiliated Hospital of Hunan University of Chinese Medicine, Changsha, ChinaBeijing University of Chinese Medicine, Beijing, ChinaSchool of Senior Translation College, Dalian University of Foreign Languages, Dalian, ChinaCapital Medical University, Beijing, ChinaBeijing University of Chinese Medicine, Beijing, ChinaDepartment of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, ChinaBeijing University of Chinese Medicine, Beijing, ChinaDepartment of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, ChinaDepartment of Rehabilitation Medicine, The Eighth Medical Center, PLA General Hospital, Beijing, ChinaDepartment of Rehabilitation Medicine, The Eighth Medical Center, PLA General Hospital, Beijing, ChinaDepartment of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, ChinaDepartment of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, ChinaObjectiveTo 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.MethodsClinical 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.ResultsThe 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.ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fmed.2025.1563299/fullwoolly hairautosomal recessiveLIPH genemutationcase report |
| spellingShingle | Ying Xie Ying Xie Sha Luo Yumei Yang Xin Zou Shuying Lv Meijiao Du Meijiao Du Yonglong Xu Yonglong Xu Xiaojuan Song Changjie Qi Nuo Li Dingquan Yang Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine woolly hair autosomal recessive LIPH gene mutation case report |
| title | Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report |
| title_full | Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report |
| title_fullStr | Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report |
| title_full_unstemmed | Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report |
| title_short | Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report |
| title_sort | autosomal recessive woolly hair hypotrichosis caused by liph mutations a case report |
| topic | woolly hair autosomal recessive LIPH gene mutation case report |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1563299/full |
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