576 kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

• SNP-array indentifies a small 576 kb 1p36 deletion (SKI) in a syndromic patient.
• Loss of function of SKI associated with CHD, epilepsy and limb anomalies.
• Microarrays are useful diagnosis tools for patients with multiple birth defects.

1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33–p36.32 containing SKI (Sloan–Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen–Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33–1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder.