JAAD Case Reports | 2019
Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation
Abstract
ARID1A: AT-rich interactive domain 1A gene ARID1B: AT-rich interactive domain 1B gene CDK: cyclin-dependent kinase CSS: Coffin-Siris syndrome MITF: microphthalmia transcription factor SMARCA4: SWI/SNFerelated, matrix-associated, actin-dependent regulator of chromatin subfamily A member 4 SMARB1: SWI/SNFerelated, matrix-associated, actin-dependent regulator of chromatin subfamily B member 1 SMARCE1: SWI/SNFerelated, matrix-associated, actin-dependent regulator of chromatin subfamily E member 1 SWI/SNF: switch/sucrose nonfermenting INTRODUCTION Coffin-Siris syndrome (CSS; Mendelian Inheritance in Man database no. 135900) is a rare autosomal dominant syndrome characterized by impaired cognition, developmental delay, hypoplasia of the fifth digit toe nail, thick eyebrows, broad nasal bridge, wide mouth, hirsutism, microcephaly, short stature, and organ dysfunction. There are only 80 cases reported since it was first described in 1970. CSS is associated with haploinsufficiency, typically due to a de novo germline mutation in 1 of 6 genes: AT-rich interactive domain 1A (ARID1A) or 1B (ARID1B); switch/sucrose nonfermenting (SWI/SNF)erelated, matrix-associated, actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4), subfamily B member 1 (SMARCB1), or subfamily E member 1 (SMARCE1); or sex-determining regionerelated HMG-box 11.