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Case Report

Düşünen Adam. 2019; 32(4): 355-358

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

Nur Seda Gülcü, Ali Karayağmurlu.

Various factors may contribute to the emergence of Autism Spectrum Disorder (ASD). Genetic factors are particularly prominent among the agents involved in the etiology of ASD, and genetic syndromes may frequently accompany the disorder. Coffin-Siris syndrome is a genetic syndrome characterized by mental retardation, a 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 in both 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 two years and 10 months with ARID1B mutation with 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 in terms of early diagnosis and treatment.

Key words: Autism, ARID1B, Coffin Siris syndrome, genetic

Article Language: Turkish English

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