Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A 2012 Aug;158A(8):1891-6
Date
06/20/2012Pubmed ID
22711443DOI
10.1002/ajmg.a.35439Scopus ID
2-s2.0-84864138914 (requires institutional sign-in at Scopus site) 26 CitationsAbstract
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.
Author List
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh SAuthor
Test W. User test user title in the Anesthesiology department at University of Wisconsin - MilwaukeeMESH terms used to index this publication - Major topics in bold
ChildChromosome Deletion
Chromosomes, Human, Pair 5
Female
Humans
In Situ Hybridization, Fluorescence
Magnetic Resonance Imaging
Male
Oligonucleotide Array Sequence Analysis
Phenotype
Syndrome
