Iqbal et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with moderate intellectual disability (IQ less than 50). The patients were 25, 22, and 18 years of age at the time of the report. All had ... Iqbal et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with moderate intellectual disability (IQ less than 50). The patients were 25, 22, and 18 years of age at the time of the report. All had delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. All had severe behavioral abnormalities, including aggression, hyperactivity, and grinding of the teeth. One had seizures. They did not have dysmorphic features. CT scans of 2 patients were unremarkable.
In 3 Pakistani sibs, born of consanguineous parents, with MRT37 and behavioral abnormalities, Iqbal et al. (2013) identified a homozygous frameshift mutation in the ANK3 gene (600465.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing ... In 3 Pakistani sibs, born of consanguineous parents, with MRT37 and behavioral abnormalities, Iqbal et al. (2013) identified a homozygous frameshift mutation in the ANK3 gene (600465.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.