[Schinzel-Giedion syndrome: a new mutation in SETBP1]

Abstract

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half year-old male patient, affected by SGS. SETBP1 sequencing analysis revealed the presence of a non-previously described mutation: c.2608G>T (p.Gly870Cys). The clinical features and differential diagnosis of this rare condition are reviewed. Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease.

Keywords: Anomalías craneofaciales; Anomalías múltiples; Craniofacial abnormalities; Discapacidad intelectual; Exoftalmos; Exophthalmos; Hipertricosis; Hipoplasia mediofacial; Hypertrichosis; Intellectual disability; Mid-face retraction; Multiple abnormalities; SETBP1Gen; SETBP1gene; Schinzel-Giedion syndrome; Síndrome Schinzel-Giedion.