Griggs et al. (2008) reported 2 unrelated patients with mental retardation and developmental disability. One patient was a 55-year-old man with profound mental retardation, no speech, mild dysmorphic features, a history of seizures, and stooped posture. The second ... Griggs et al. (2008) reported 2 unrelated patients with mental retardation and developmental disability. One patient was a 55-year-old man with profound mental retardation, no speech, mild dysmorphic features, a history of seizures, and stooped posture. The second patient was a girl with anhidrotic ectodermal dysplasia (ED1; 305100) previously reported by MacDermot and Hulten (1990). She was reported to have delayed speech and psychomotor development, but attended a special school.
Both patients with mental retardation and developmental disability reported by Griggs et al. (2008) had a heterozygous disruption of the DOCK8 gene. The male had a genomic deletion of approximately 230 kb in subtelomeric 9p. The female carried ... Both patients with mental retardation and developmental disability reported by Griggs et al. (2008) had a heterozygous disruption of the DOCK8 gene. The male had a genomic deletion of approximately 230 kb in subtelomeric 9p. The female carried a de novo balanced translocation t(X;9)(q13.1;p24), which also interrupted the EDA gene (300451). Mapping of the critical region shared by the 2 patients showed truncation of the longest isoform of DOCK8.