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Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile
Author(s) -
Alesi Viola,
Loddo Sara,
Orlando Valeria,
Genovese Silvia,
Di Tommaso Silvia,
Liambo Maria Teresa,
Pompili Daniele,
Ferretti Daniele,
Calacci Chiara,
Catino Giorgia,
Falasca Roberto,
Dentici Maria Lisa,
Novelli Antonio,
Digilio Maria Cristina,
Dallapiccola Bruno
Publication year - 2021
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.61937
Subject(s) - haploinsufficiency , craniofacial , williams syndrome , neurocognitive , short stature , autism spectrum disorder , gene , genetics , phenotype , genetic disorder , connective tissue disorder , craniofacial abnormality , medicine , biology , autism , pathology , neuroscience , pediatrics , cognition , psychiatry
Williams–Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of ELN gene. A few cases of larger or smaller deletions have been reported spanning towards the centromeric or the telomeric regions, most of which included ELN gene. We report on three patients from two unrelated families, presenting with distinctive WBS features, harboring an atypical distal deletion excluding ELN gene. Our study supports a critical role of CLIP2 , GTF2IRD1 , and GTF2I gene in the WBS neurobehavioral profile and in craniofacial features, highlights a possible role of HIP1 in the autism spectrum disorder, and delineates a subgroup of WBS individuals with an atypical distal deletion not associated to an increased risk of cardiovascular defects.