Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

ABSTRACT:

Importance

Patients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes for very rare disorders, enabling a molecular diagnosis. Genomics is also revealing a phenotypic expansion whereby the full spectrum of clinical expression conveyed by mutant alleles at a locus can be better appreciated.

Objective

To elucidate the molecular cause of a complex neuropathy phenotype in 3 patients by applying genomic sequencing strategies.

Design, setting, and participants

Three affected individuals from 2 unrelated families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly. They were recruited into

SUBMITTER: Gonzaga-Jauregui C 

PROVIDER: S-EPMC4039291 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature