SOX5 encodes a transcription factor involved in the development of the brain as well as other organs including eyes and the skeleton.
Lamb-Shaffer syndrome is a rare autosomal-dominant condition related to haploinsufficiency of SOX5 (heterozygous loss of function).
Approximately 80 individuals with Lamb-Shaffer syndrome have been published in medical research journals as of May, 2023. They ranged from infants to adults (in their thirties).
Typical clinical characteristics include developmental motor delay, prominent language delay, mild-to-moderate intellectual disability, and behavioural disturbances that can manifest as autism spectrum disorder. Other possible manifestations include specific facial characteristics, hypotonia, short stature, microcephaly, epilepsy, optic atrophy, scoliosis and mild skeletal malformations.
SOX5