A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Mahdiyeh Behnam; Shin Jin-Hong; Dae-Seong Kim; Keivan Basiri; Yalda Nilipour; Maryam Sedghi

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

J Res Med Sci. 2014 Aug;19(8):792-4.

Authors

Mahdiyeh Behnam¹, Shin Jin-Hong², Dae-Seong Kim², Keivan Basiri³, Yalda Nilipour⁴, Maryam Sedghi¹

Affiliations

¹ Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
² Department of Neurology, Yangsan Hospital, Pusan National University, Yangsan, Republic of Korea.
³ Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
⁴ Neurology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran ; Neuropathology Lab, Toos Hospital, Tehran, Iran.

PMID: 25422667
PMCID: PMC4235102

Abstract

Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 612 to glutamine in an Iranian patient. This mutation is located in exon 10 within the kinase domain of the protein.

Keywords: GNE; hIBM; neuromuscular; sialic acid.

Publication types

Case Reports