期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 54, 期 4, 页码 E461-E464出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2011.04.006
关键词
Array-CGH; De novo microdeletion; 11q13.1; Mental retardation; MEN1; Dysmorphic features; Autistic traits; Language disorder; NRXN1; PPP2R5B
We report a 21-year-old patient with speech problems, autistic traits, dysmorphic facial features, broad thumbs with short distal phalanges and a pancreatic gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 11q13.1. The deleted region contains several genes which likely contribute to the patient's complex phenotype, including the MEN1 gene. The deletion of the MEN1 gene is causing multiple endocrine neoplasia type 1 (MEN1). The neurodevelopmental phenotype of the patient might be associated with the deletion of the genes NRXN2 and PPP2R5B which have been described to be involved in synaptogenesis and dendritic branching. According to our knowledge, we report for the first time a patient with the combination of a neurodevelopmental phenotype and MEN1 caused by a microdeletion on chromosome 11. (C) 2011 Elsevier Masson SAS. All rights reserved.
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