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Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome
Author(s) -
Hosoki Kana,
Ohta Tohru,
Natsume Jun,
Imai Sumiko,
Okumura Akihisa,
Matsui Takeshi,
Harada Naoki,
Bacino Carlos A.,
Scaglia Fernando,
Jones Jeremy Y.,
Niikawa Norio,
Saitoh Shinji
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35439
Subject(s) - hypotonia , microdeletion syndrome , candidate gene , phenotype , intellectual disability , global developmental delay , microarray , medicine , microarray analysis techniques , respiratory distress , genetics , bioinformatics , gene , biology , pediatrics , gene expression , anesthesia
Array‐based technologies have led to the identification of many novel microdeletion and microduplication syndromes demonstrating multiple congenital anomalies and intellectual disability (MCA/ID). We have used chromosomal microarray analysis for the evaluation of patients with MCA/ID and/or neonatal hypotonia. Three overlapping de novo microdeletions at 5q31.3 with the shortest region of overlap (SRO) of 370 kb were detected in three unrelated patients. These patients showed similar clinical features including severe neonatal hypotonia, neonatal feeding difficulties, respiratory distress, characteristic facial features, and severe developmental delay. These features are consistent with the 5q31.3 microdeletion syndrome originally proposed by Shimojima et al., providing further evidence that this syndrome is clinically discernible. The 370 kb SRO encompasses only four RefSeq genes including neuregulin 2 ( NRG2 ) and purine‐rich element binding protein A ( PURA ). NRG2 is one of the members of the neuregulin family related to neuronal and glial cell growth and differentiation, thus making NRG2 a good candidate for the observed phenotype. Moreover, PURA is also a good candidate because Pura ‐deficient mice demonstrate postnatal neurological manifestations. © 2012 Wiley Periodicals, Inc.