Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.
Szigeti
Kinga
K
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA.
Wiszniewski
Wojciech
W
Saifi
Gulam Mustafa
GM
Sherman
Diane L
DL
Sule
Norbert
N
Adesina
Adekunle M
AM
Mancias
Pedro
P
Papasozomenos
Sozos Ch
SCh
Miller
Geoffrey
G
Keppen
Laura
L
Daentl
Donna
D
Brophy
Peter J
PJ
Lupski
James R
JR
D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D051767:Early Growth Response Protein 2 / Q000737:chemistry / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000502:physiology; D010641:Phenotype; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid; D016335:Zinc Fingers / Q000235:genetics
C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D004247:DNA
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