SPTBN1 Heterozygous Mutation and Autism Spectrum Disorder: Is Paternal Inheritance Possible? A Case Report from Türkiye

Authors : Dilan Aydin Ayva, Selma Tural Hesapçıoğlu, Mehmet Ceylan

Pages : 75-78

Doi:10.19127/bshealthscience.1607535

View : 27 | Download : 46

Publication Date : 2025-03-15

Article Type : Other Papers

Abstract :Autism spectrum disorder (ASD) is a neurodevelopmental disorder defined by impairments in social communication and interaction, restricted and repetitive behaviors, and ritualized behavioral patterns. It was reported 70-90% hereditary transmission in ASD. Single gene variants on chromosomes 1, 2, 3, 5, 7, 15, 16 and 22 have been reported to be associated with ASD. SPTBN1 encodes a βII-spectrin, which plays a critical role in the organization of the neuronal cytoskeleton. Variants in the SPTBN1 gene can therefore lead to various neurological diseases. Until now, the SPTBN1 gene located at the 2p16.2 locus has been shown to be associated with both maternal inheritance and de novo mutations. However, to the best of our knowledge, paternal inheritance has not yet been reported. In this study, we present a female autism case with a paternally inherited heterozygous missense mutation in the SPTBN1 gene. Additionally, this case represents the first autism case carrying an SPTBN1 mutation reported from Türkiye.
Keywords : Paternal inheritance, Autism spectrum disorder, SPTBN1, Heterozygous mutation, Neurodevelopmental delay, Whole exome sequencing