Journal
HORMONE RESEARCH IN PAEDIATRICS
Volume 84, Issue 3, Pages 212-216Publisher
KARGER
DOI: 10.1159/000436965
Keywords
Gonadotropin deficiency; Mutation; SOX10 gene; Waardenburg syndrome
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Funding
- Ministry of Health, Labor and Welfare
- Takeda Science Foundation
- Japan Society for the Promotion of Science
- Ministry of Education, Culture, Sports, Science and Technology
- National Center for Child Health and Development
- Grants-in-Aid for Scientific Research [25253023, 15K19538] Funding Source: KAKEN
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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. (C) 2015 S. Karger AG, Basel
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