Coffin-siris syndrome Q82.4

Mutations have been detected in the ARID1A gene (AT-Rich Interaction Domain 1A), a protein-coding gene located on chromosome 1p36.11 (Kosho Tet al. 2014). Further mutations have been described in the genes: SMARCB1, SMARCA4 and SMARCE1.

Growth retardation, microcephaly, epilepsy, trichodystrophy, diffuse alopecia, hypertrichosis in the back, upper arms and thighs, tooth enamel hypoplasia, clinodactyly of the 5th finger and toes. Susceptibility to respiratory infections.

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6. Kosho Tet al (2014) Coffin-Siris Syndrome International Collaborators. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet 166C:262-275.