Premium
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot‐Marie‐Tooth type 1 disease
Author(s) -
Bellone Emilia,
Di Maria Emilio,
Soriani Silvia,
Varese Alessandra,
Doria Laura Lamba,
Ajmar Franco,
Mandich Paola
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199910)14:4<353::aid-humu17>3.0.co;2-4
Subject(s) - biology , genetics , mutation , phenotype , gene , compound heterozygosity , point mutation
Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot‐Marie‐Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a interfamilial and intrafamilial clinical variation, ranging from asymptomatic expression to severe muscular weakness and atrophy. Recently point mutations in the early growth response 2 gene (EGR2/Krox‐20) have been associated with hereditary myelinopathies. We investigated for mutations at the EGR2 gene a patient with severe CMT1 phenotype. Direct sequencing of EGR2 gene showed a heterozygous A T transversion at nucleotide 1064 that predicts an Asp305Val substitution within the first zinc‐finger domain. The finding of a novel EGR2 mutation associated with a different phenotype confirms that peripheral neuropathies represent a continuum spectrum of related disorders due to an underlying defect in myelination. Hum Mutat 14:353–354, 1999. © 1999 Wiley‐Liss, Inc.