Loss-of-function SOX10 mutation in a patient with kallmann syndrome, hearing loss, and iris hypopigmentation

Erina Suzuki, Yoko Izumi, Yuta Chiba, Reiko Horikawa, Yoichi Matsubara, Mamoru Tanaka, Tsutomu Ogata, Maki Fukami, Yasuhiro Naiki

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


Background: Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of hypogonadotropic hypogonadism and anosmia. KS is occasionally associated with deafness. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS) characterized by deafness, skin/hair/iris hypopigmentation, Hirschsprung disease, and neurological defects, have been identified in a few patients with KS and deafness. However, the current understanding of the clinical consequences of SOX10 mutations remains fragmentary. Case Report: A Japanese male patient presented with sensory deafness, blue irises, and anosmia, but no hair/skin hypopigmentation, Hirschsprung disease, or neurological abnormalities. He showed no pubertal sex development at 15.1 years of age. Blood examinations revealed low levels of FSH and testosterone. Results: Molecular analysis detected a de novo p.Leu145Pro mutation in SOX10, which has previously been reported in a patient with WS and Hirschsprung disease. The mutation was predicted to be probably damaging. The mutant protein barely exerted in vitro transactivating activity. Conclusions: These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS with deafness. Importantly, our data imply that the same SOX10 mutations can underlie both typical WS and KS with deafness without skin/hair hypopigmentation, Hirschsprung disease, or neurological defects.

Original languageEnglish
Pages (from-to)212-216
Number of pages5
JournalHormone Research in Paediatrics
Issue number3
Publication statusPublished - 2015 Sept 22


  • Gonadotropin deficiency
  • Mutation
  • SOX10 gene
  • Waardenburg syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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