期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 55, 期 3, 页码 222-224出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.01.016
关键词
Microduplication 17p13.1; Intellectual disability; Afebrile seizures; Diabetes; Metabolic syndrome
资金
- Regione Piemonte ricerca Sanitaria Finalizzata
We report a patient with a moderate mental retardation, afebrile seizure, mild dysmorphic features and type 2 diabetes mellitus with mild obesity and metabolic syndrome. Array-CGH analysis revealed a de novo 790-830 kb duplication on chromosome 17p13.1, not reported so far. Among the approximately 50 genes involved in the rearrangement, neuroligin 2 (NLGN2) and ephrin B3 (EFNB3) are candidates for the mental retardation phenotype. NLGN2 may therefore be a novel candidate gene for mental retardation or autistic spectrum disorder, joining other members of the neurexin/neuroligin network. Moreover, GLUT4, a member of the solute carrier family 2, may play a role in the patient's type 2 diabetes. (C) 2012 Elsevier Masson SAS. All rights reserved.
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