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

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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, CHROMATIN-REMODELING COMPLEX, COFFIN-SIRIS SYNDROME, FAMILY PROTEINS, MUTATIONS, GENES, SPECIFICITY, COMPONENTS, PHENOTYPE, GENOTYPE, SUBUNITS

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Chicago
Van Paemel, Ruben, Pauline De Bruyne, Saskia van der Straaten, Marleen D’Hondt, Urlien Fränkel, Annelies Dheedene, Björn Menten, and Bert Callewaert. 2017. “Confirmation of an ARID2 Defect in SWI/SNF-related Intellectual Disability.” American Journal of Medical Genetics Part A 173 (11): 3104–3108.
APA
Van Paemel, R., De Bruyne, P., van der Straaten, S., D’Hondt, M., Fränkel, U., Dheedene, A., Menten, B., et al. (2017). Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 173(11), 3104–3108.
Vancouver
1.
Van Paemel R, De Bruyne P, van der Straaten S, D’Hondt M, Fränkel U, Dheedene A, et al. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(11):3104–8.
MLA
Van Paemel, Ruben, Pauline De Bruyne, Saskia van der Straaten, et al. “Confirmation of an ARID2 Defect in SWI/SNF-related Intellectual Disability.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173.11 (2017): 3104–3108. Print.
@article{8542156,
  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 {\textacutedbl}SWI/SNF-related intellectual disability syndromes.{\textacutedbl}},
  author       = {Van Paemel, Ruben and De Bruyne, Pauline and van der Straaten, Saskia and D'Hondt, Marleen and Fr{\"a}nkel, Urlien and Dheedene, Annelies and Menten, Bj{\"o}rn and Callewaert, Bert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keyword      = {ARID2,SWI/SNF complex,coffin-siris syndrome,intellectual disability,nicolaides baraitser syndrome,CHROMATIN-REMODELING COMPLEX,COFFIN-SIRIS SYNDROME,FAMILY PROTEINS,MUTATIONS,GENES,SPECIFICITY,COMPONENTS,PHENOTYPE,GENOTYPE,SUBUNITS},
  language     = {eng},
  number       = {11},
  pages        = {3104--3108},
  title        = {Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability},
  url          = {http://dx.doi.org/10.1002/ajmg.a.38407},
  volume       = {173},
  year         = {2017},
}

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