Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
| Autor: | Ruben Van Paemel, Annelies Dheedene, Pauline De Bruyne, Saskia van der Straaten, Urlien Fränkel, Bert Callewaert, Björn Menten, Marleen D’Hondt |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Foot Deformities Congenital Chromosomal Proteins Non-Histone Micrognathism Motor Disorders Hypotrichosis Short stature 03 medical and health sciences Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple Genetic Predisposition to Disease Craniofacial Coffin–Siris syndrome Genetics (clinical) SWI/SNF complex business.industry ARID2 gene Facies medicine.disease SWI/SNF 030104 developmental biology Nicolaides–Baraitser syndrome Child Preschool Face Female medicine.symptom business Hand Deformities Congenital Neck Transcription Factors |
| Zdroj: | American journal of medical genetics. Part A. 173(11) |
| ISSN: | 1552-4833 |
| Popis: | 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." |
| Databáze: | OpenAIRE |
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