期刊
MOLECULAR SYNDROMOLOGY
卷 3, 期 1, 页码 1-5出版社
KARGER
DOI: 10.1159/000338706
关键词
Holoprosencephaly; Kallmann syndrome; Septo-optic dysplasia
资金
- Academy of Finland
- Foundation for Paediatric Research
- Helsinki University Central Hospital Research Funds
- Sigrid Juselius Foundation
- Helsinki University Research Funds
- Emil Aaltonen Foundation
Patients with Kallmann syndrome (KS; congenital hypogonadotropic hypogonadism and decreased/absent sense of smell), septo-optic dysplasia (SOD), or holoprosencephaly (HPE) reportedly have midline defects. In this study, we investigate a genetic overlap between KS, SOD, and HPE. Nineteen subjects (18 males, 1 female) with KS and without mutations in the known KS genes were screened for mutations in SOX2, SHH, SIX3, TGIF1, TDGF1, FOXH1, GLI2, and GLI3. One male carried 2 heterozygous missense changes, one in SIX3 (c. 428G > A, p.G143D) and the other in GLI2 (c.2509G > A, p. E837K). Both of these genes have been implicated in the etiology of HPE and neither of these changes were present in 200 control subjects. Other variants found among the subjects were known polymorphisms. KS and HPE may display a genetic overlap. The involvement of genes implicated in the etiology of midline defects in patients with KS warrants further studies. Copyright (C) 2012 S. Karger AG, Basel
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