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

• Published in: JAMA neurology Vol. 70; no. 12; p. 1491
• Main Authors: Gonzaga-Jauregui, Claudia, Lotze, Timothy, Jamal, Leila, Penney, Samantha, Campbell, Ian M, Pehlivan, Davut, Hunter, Jill V, Woodbury, Suzanne L, Raymond, Gerald, Adesina, Adekunle M, Jhangiani, Shalini N, Reid, Jeffrey G, Muzny, Donna M, Boerwinkle, Eric, Lupski, James R, Gibbs, Richard A, Wiszniewski, Wojciech
• Format: Journal Article
• Language: English
• Published: United States 01.12.2013
• Subjects: Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Hereditary Sensory and Motor Neuropathy - complications; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - pathology; Humans; Infant; Intracellular Signaling Peptides and Proteins - genetics; Magnetic Resonance Imaging; Male; Microcephaly - complications; Microcephaly - genetics; Microcephaly - pathology; Mutation - genetics; Neural Conduction - genetics; Polymorphism, Single Nucleotide - genetics; Protein Serine-Threonine Kinases - genetics

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 wher...