Parents

SOX5 is a gene important for the normal development of the brain and other organs, including eyes and the skeleton.
Approximately 80 individual cases of pathogenic variants or partial or complete deletions in SOX5 have been reported in the medical research literature as of May, 2023, always in patients with a similar syndrome, referred to as Lamb-Shaffer syndrome. This syndrome is autosomal dominant, i.e., only one of the two SOX5 copies existing in the entire genome is altered. Most pathogenic variants and deletions occur de novo in affected individuals, but parental mosaicism is occasionally observed and can result in families with several affected children.
The main clinical features associated with a pathogenic alteration of SOX5 include developmental delay, speech deficits, intellectual disability, particular facial characteristics, and other features that are not always present, such as small , low muscle tone, optic atrophy and or mild skeletal malformations.