title: Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
abstract: 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.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA.
authors: Kinga
authors: K
authors: Szigeti
authors: Wojciech
authors: W
authors: Wiszniewski
authors: Gulam Mustafa
authors: GM
authors: Saifi
authors: Diane L
authors: DL
authors: Sherman
authors: Norbert
authors: N
authors: Sule
authors: Adekunle M
authors: AM
authors: Adesina
authors: Pedro
authors: P
authors: Mancias
authors: Sozos Ch
authors: SCh
authors: Papasozomenos
authors: Geoffrey
authors: G
authors: Miller
authors: Laura
authors: L
authors: Keppen
authors: Donna
authors: D
authors: Daentl
authors: Peter J
authors: PJ
authors: Brophy
authors: James R
authors: JR
authors: Lupski
mesh_terms: 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
chemical_list: C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D004247:DNA
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