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.
Autism, ARID1B, Coffin Siris syndrome, genetic
Article Language: Turkish English Similar Articles
Percutaneous tibial nerve stimulation in patients with severe low anterior resection syndrome: randomized clinical trial.
Marinello FG, JimÃ©nez LM, Talavera E, Fraccalvieri D, Alberti P, Ostiz F, Frago R, Blanco A, Pellino G, EspÃn-Basany E
The British journal of surgery. 2021; ():
Multi-Omics Data Analysis of Gene Expressions and Alterations, Cancer-Associated Fibroblast and Immune Infiltrations, Reveals the Onco-Immune Prognostic Relevance of STAT3/CDK2/4/6 in Human Malignancies.
Lawal B, Lin LC, Lee JC, Chen JH, Bekaii-Saab TS, Wu ATH, Ho CL
Cancers. 2021; 13(5):
Outcomes of Descemet stripping endothelial keratoplasty combined with near total iridectomy in iridocorneal endothelial syndrome.
Chaurasia S, Senthil S, Choudhari N
BMJ case reports. 2021; 14(2):
Starting age of estrogen-progestin therapy is negatively associated with bone mineral density in young adults with Turner Syndrome independent of age and body mass index.
Nishigaki S, Itonaga T, Hasegawa Y, Kawai M
Clinical endocrinology. 2021; ():
FGL1 as a modulator of plasma D-dimer levels: exome-wide marker analysis of plasma tPA, PAI-1 and D-dimer.
Thibord F, Song C, Pattee J, Rodriguez BAT, Chen MH, O'Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo-Martinez M, Silveira A, Temprano-Sagrera G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, KilpelÃ¤inen TO, Grarup N, Pedersen O, Hansen T, Linneberg A, Hamsten A, Watkins H, Sabater-Lleal M, Nalls MA, TrÃ©gouÃ«t DA, Morange PE, Psaty BM, Tracy RP, Smith NL, Desch KC, Cushman M, Rotter JI, de Vries PS, Pankratz ND, Folsom AR, Morrison AC, MÃ¤rz W, Tang W, Johnson AD
Journal of thrombosis and haemostasis : JTH. 2021; ():
Association analysis and molecular tagging of phytochemicals in the endangered medicinal plant licorice (Glycyrrhiza glabra L.).
Hosseini MS, Ebrahimi M, Samsampour D, AbadÃa J, Khanahmadi M, Amirian R, Ghafoori IN, Ghaderi-Zefrehei M, Gogorcena Y
Phytochemistry. 2021; 183(): 112629
Could the use of saliva substitutes improve food oral processing in individuals with xerostomia? A systematic review.
Piaton S, Duconseille A, Roger-Leroi V, Hennequin M
Journal of texture studies. 2021; ():
Germline variants discovered in lymphoma patients undergoing tumor profiling: a case series.
Scott AJ, Tokaz MC, Jacobs MF, Chinnaiyan AM, Phillips TJ, Wilcox RA
Familial cancer. 2021; 20(1): 61-65