当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mohrmann I,Gillessen-Kaesbach G,Siebert R,Caliebe A,Hellenbroich Y

doi

10.1016/j.ejmg.2011.04.006

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

e461-4

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00058-9

journal_volume

54

pub_type

信件

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