Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
7q11.23
ELN
WBS
Williams-Beuren syndrome
atypical deletion
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
01
07
2020
revised:
01
10
2020
accepted:
10
10
2020
pubmed:
25
10
2020
medline:
30
6
2021
entrez:
24
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33098373
doi: 10.1002/ajmg.a.61937
doi:
Substances chimiques
ELN protein, human
0
Elastin
9007-58-3
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
242-249Informations de copyright
© 2020 Wiley Periodicals LLC.
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