Suad Alhmadi Author

Research Article Open Access

Novel Homozygous Variant of TBC1D8 Gene in Four Libyan Siblings with Autistic Spectrum Disorder and Intellectual Disability without Epilepsy

Author(s):

Adel Zeglam and Suad Alhmadi

Introduction: A global prevalence of Autistic Spectrum Disorder (ASD) was estimated on review of epidemiological studies and has been found to be increasing. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. TBC1D8 (TBC1 Domain Family Member 8) is a Protein Coding gene. Among its related pathways is cell cycle. The number of genes associated with autism is increasing. Whole exome sequencing (WES) identified the homozygous TBC1D8 variant.

Aim: To report for the first time a TBC1D8 missense variant (c. 1883G>A, p. (Arg628Gln) in 4 Libyan children (3 homozygous, 1 heterozygous)with severe neurodevelopmental phenotypes (ASD) and intellectual disability (ID)... view more»

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