Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability

ARID2 loss‐of‐function is associated with a rare genetic disorder characterized in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose non‐fermentable chromatin remodeling complex. Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 179; no. 5; pp. 808 - 812
Main Authors:	Khazanchi, Rohan, Ronspies, Carey A., Smith, Scott C., Starr, Lois J.
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-05-2019 Wiley Subscription Services, Inc
Subjects:	ARID2 Attention deficit hyperactivity disorder Child Chromatin remodeling Chromosomal Proteins, Non-Histone Coffin‐Siris syndrome Facies Fetuses Genetic Association Studies Genetic disorders Genetic Predisposition to Disease Genetic Variation Genotype & phenotype Homeostasis Humans Hypoplasia Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Literature reviews Loss of Function Mutation Male Melanoma Mutation Nicolaides‐Baraitser syndrome Patients Phenotype Phenotypes Radiography Skin Skin pigmentation Skin Pigmentation - genetics Sucrose SWI/SNF complex Toenail Transcription Factors - genetics Nicolaides-Baraitser syndrome melanoma ARID2 Coffin-Siris syndrome SWI/SNF complex
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Summary:	ARID2 loss‐of‐function is associated with a rare genetic disorder characterized in 14 reported patients to date. ARID2 encodes a member of the SWItch/sucrose non‐fermentable chromatin remodeling complex. Other genes encoding subunits of this complex, such as ARID1A, ARID1B, and SMARCA2, are mutated in association with Coffin‐Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. Previously reported ARID2 mutations manifested clinically with a CSS‐like phenotype including intellectual disability, coarsened facial features, fifth toenail hypoplasia, and other recognizable dysmorphisms. However, heterogeneity exists between previously reported patients with some patients showing more overlapping features with NCBRS. Herein, we present a patient with a novel disease‐causing ARID2 loss‐of‐function mutation. His clinical features included intellectual disability, coarse and dysmorphic facial features, toenail hypoplasia, ADHD, short stature, and delayed development consistent with prior reports. Our patient also presented with previously unreported clinical findings including ophthalmologic involvement, persistent fetal fingertip and toetip pads, and diffuse hyperpigmentary and hypopigmentary changes sparing his face, palms, and soles. The anomalous skin findings are particularly of interest given prior literature outlining the role of ARID2 in melanocyte homeostasis and melanoma. This clinical report and review of the literature is further affirming of the characteristic symptoms and expands the phenotype of this newly described and rare syndrome.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.61075