Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.

ABSTRACT:

Objective

To identify the underlying molecular basis of a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties in 4 sisters from a consanguineous family.

Methods

Whole-exome analysis of DNA of the 2 older patients followed by Sanger sequencing of the mutated exon in all family members.

Results

A homozygous deleterious mutation, p.C291X, was identified in the GPR88 gene in both exome analyses. The mutation segregated with the disease in the family and was absent from a large cohort of controls.

Conclusions

Homozygous deleterious mutation in GPR88 in humans is associated with marked speech delay, learning disabilities, and chorea, which manifest at 8-9 years of age. The finding is consistent with the reported abu

SUBMITTER: Alkufri F 

PROVIDER: S-EPMC4830197 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature