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Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
  1. Xin Zhang1,2,
  2. Bi-Rong Guo1,2,
  3. Li-Qiong Cai1,2,
  4. Tao Jiang3,
  5. Liang-Dan Sun1,2,
  6. Yong Cui1,2,
  7. Jing-Chu Hu3,
  8. Jun Zhu1,2,
  9. Gang Chen2,
  10. Xian-Fa Tang1,2,
  11. Guang-Qing Sun3,
  12. Hua-Yang Tang1,2,
  13. Yuan Liu1,2,
  14. Min Li1,2,
  15. Qi-Bin Li3,
  16. Hui Cheng1,2,
  17. Min Gao1,2,
  18. Ping Li1,2,
  19. Xu Yang3,
  20. Xian-Bo Zuo2,
  21. Xiao-Dong Zheng2,
  22. Pei-Guang Wang1,2,
  23. Jian Wang3,
  24. Jun Wang3,
  25. Jian-Jun Liu2,
  26. Sen Yang1,2,
  27. Ying-Rui Li3,
  28. Xue-Jun Zhang1,2
  1. 1Department of Dermatology, Institute of Dermatology, No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China
  2. 2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China
  3. 3Beijing Genomics Institute-Shenzhen, Shenzhen, China
  1. Correspondence to Xue-Jun Zhang, Department of Dermatology, Institute of Dermatology, No. 1 Hospital, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China; ayzxj{at}; Ying-Rui Li, Beijing Genomics Institute-Shenzhen, Shenzhen, China; liyr{at}


Background Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1–1q21.3 region responsible for MUHH has been identified.

Methods Exome sequencing was performed on two affected subjects, who had normal vertex hair and modest alopecia, and one unaffected individual from a four-generation MUHH family of which our previous linkage study mapped the MUHH locus on chromosome 1p21.1–1q21.3.

Results We identified a missense mutation in EPS8L3 (NM_024526.3: exon2: c.22G->A:p.Ala8Thr) within 1p21.1–1q21.3. Sanger sequencing confirmed the cosegregation of this mutation with the disease phenotype in the family by demonstrating the presence of the heterozygous mutation in all the eight affected and absence in all the seven unaffected individuals. This mutation was found to be absent in 676 unrelated healthy controls and 781 patients of other disease from another unpublished project of our group.

Conclusions Taken together, our results suggest that EPS8L3 is a causative gene for MUHH, which was helpful for advancing us on understanding of the pathogenesis of MUHH. Our study also has further demonstrated the effectiveness of combining exome sequencing with linkage information for identifying Mendelian disease genes.

  • Marie Unna Hereditary Hypotrichosis
  • Exome Sequencing

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