Article
Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.
Cold Spring Harbor molecular case studies - 1 Nov 2016
Colby Samantha, Yehia Lamis, Niazi Farshad, Chen JinLian, Ni Ying, Mester Jessica L, Eng Charis
Abstract excerpt
Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in constitutive...
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