Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van Paemel; Pauline De Bruyne; Saskia van der Straaten; Marleen D'hondt; Urlien Fränkel; Annelies Dheedene; Björn Menten; Bert Callewaert

doi:10.1002/ajmg.a.38407

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Am J Med Genet A. 2017 Nov;173(11):3104-3108. doi: 10.1002/ajmg.a.38407. Epub 2017 Sep 8.

Authors

Ruben Van Paemel¹, Pauline De Bruyne², Saskia van der Straaten³, Marleen D'hondt², Urlien Fränkel⁴, Annelies Dheedene¹, Björn Menten¹, Bert Callewaert¹

Affiliations

¹ Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
² Department of Pediatric Gastroenterology, Ghent University Hospital, Ghent, Belgium.
³ Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
⁴ Center for Developmental Disorders, Ghent University Hospital, Ghent, Belgium.

PMID: 28884947
DOI: 10.1002/ajmg.a.38407

Abstract

We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."

Keywords: ARID2; SWI/SNF complex; coffin-siris syndrome; intellectual disability; nicolaides baraitser syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology
Child, Preschool
Chromosomal Proteins, Non-Histone / genetics*
Face / abnormalities
Face / pathology
Facies
Female
Foot Deformities, Congenital / diagnosis
Foot Deformities, Congenital / genetics
Foot Deformities, Congenital / pathology
Genetic Predisposition to Disease
Hand Deformities, Congenital / diagnosis
Hand Deformities, Congenital / genetics
Hand Deformities, Congenital / pathology
Humans
Hypotrichosis / diagnosis
Hypotrichosis / genetics
Hypotrichosis / pathology
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Intellectual Disability / pathology
Intellectual Disability / physiopathology
Micrognathism / diagnosis
Micrognathism / genetics
Micrognathism / pathology
Motor Disorders / genetics*
Motor Disorders / physiopathology
Neck / abnormalities
Neck / pathology
Transcription Factors / genetics*

Substances

ARID2 protein, human
Chromosomal Proteins, Non-Histone
SWI-SNF-B chromatin-remodeling complex
Transcription Factors

Supplementary concepts

Coffin-Siris syndrome
Nicolaides Baraitser syndrome