ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder

Gulcu N. S., Karayagmurlu A.

DUSUNEN ADAM-JOURNAL OF PSYCHIATRY AND NEUROLOGICAL SCIENCES, vol.32, no.4, pp.355-358, 2019 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.14744/dajpns.2019.00051
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.355-358
  • Keywords: Autism, ARID1B, Coffin-Siris syndrome, genetic, COPY NUMBER VARIATION, RETT-SYNDROME, CHILDREN
  • Istanbul University Affiliated: Yes


Various factors may contribute to the emergence of Autism Spectrum Disorder (ASD). Genetic factors are particularly prominent in the etiology of ASD, and genetic syndromes may frequently accompany the disorder. Coffin-Siris syndrome is a genetic condition characterized by mental retardation, coarse facial appearance, hirsutism/hypertrichosis or skin with sparse hair, distal phalanx aplasia or hypoplasia, and fifth-finger and nail abnormalities. This genetic syndrome is accompanied by numerous different cardiac, genitourinary, gastrointestinal, ophthalmological, and craniofacial systemic abnormalities. ARID1B gene mutation is thought to be involved both in Coffin-Siris syndrome and in the etiology of autism. Although common genetic factors are involved in the etiologies of both diseases, our review of the literature revealed only one case report demonstrating an association between Coffin-Siris syndrome and ASD. This report describes a male patient aged 2 years and 10 months with ARID1B mutation showing Coffin-Siris syndrome and ASD comorbidity. It may be beneficial for clinicians to remember the coexistence of genetic syndromes in patients diagnosed with ASD and to request consultations from relevant departments for early diagnosis and treatment.