DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin‐Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy‐Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2‐oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 28, 2014 Category: Genetics & Stem Cells Authors: Philippe M. Campeau, Raoul C. Hennekam, Tags: Research Article Source Type: research