Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations

SOX2 (OMIM: 184429) encodes for a transcription factor of the SRY (sex-determining region Y)-related high-mobility-group box family which regulates pluripotency of human embryonic stem cells and is indispensable for coordinated embryogenesis. Pathogenic variants within this gene are associated with autosomal dominant syndromic forms of uni- or bilateral micro- or anophthalmia and a wide range of non-ocular features including neurological, gastrointestinal, genital, skeletal, cardiovascular, endocrine and renal anomalies [1].

from Journal of the Neurological Sciences http://bit.ly/2Im1J0k