Genetics of GNE myopathy in the non-Jewish Persian population

Haghighi, Alireza; Nafissi, Shahriar; Qurashi, Abrar; Tan, Zheng; Shamshiri, Hosein; Nilipour, Yalda; Haghighi, Amirreza; Desnick, Robert J.; Kornreich, Ruth

doi:10.1038/ejhg.2015.78

Cited by 23 publications

(27 citation statements)

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“…The GNE gene, mapped to chromosome 9p13.3, spans 62.6 kb and contains 13 exons . Eight different GNE mRNA splice variants encode multiple protein isoforms, the longest consists of 753 amino acids (NM_001128227, NP_001121699, all mutations in this study are described based upon this transcript) . The GNE protein contains two functional domains: an N‐terminal epimerase domain and a C‐terminal kinase domain .…”

Section: Discussionmentioning

confidence: 99%

“…These play important roles in cell adhesion and signal transduction . The GNE protein ubiquitously expresses in almost all tissues, with the highest levels in liver and placenta, while relatively low levels in skeletal muscle. It localizes to the cytoplasm, the Golgi‐region and the cell nucleus …”

Section: Discussionmentioning

confidence: 99%

“…This is a distinctive feature compared to other myopathies with similar clinical manifestations. However, the effect of GNE variants on sialylation is unsettled and has yet to be satisfactorily elucidated …”

Section: Discussionmentioning

confidence: 99%

“…It is distinguishable from atypical patients who had at least one allele mutation in the non‐kinase domain . The presence of different genetic backgrounds, epigenetic factors and/or modifying environmental events may contribute significantly to the clinical manifestations . Parental consanguinity was denied by the family, but the mutant allele may originate from a founder as the patients’ parents are from the same geographical region.…”

Section: Discussionmentioning

confidence: 99%

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Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Yuan

Guo

et al. 2018

J Cellular Molecular Medi

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GNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE). This study aimed to identify the disease‐causing mutation in a three‐generation Han‐Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co‐segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Yuan

Guo

et al. 2018

J Cellular Molecular Medi

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“…Pour être actif et entrer dans le processus de sialylation, l'acide sialique doit ensuite être couplé à un résidu cytidine monophosphate (CMP-Neu5Ac) sous l'influence d'une synthétase située dans le noyau cellulaire. Le L'effet fondateur, qui daterait de 2 500 ans, a diffusé plus largement au Moyen-Orient et au Maghreb, en Tunisie notamment (Amouri, 2005), et ce dans des populations non-juives (Haghighi, 2015). Plusieurs familles ont ainsi été diagnostiquées dans des communautés palestiniennes et bédouines du Moyen-Orient établies en Israël, en Arabie Saoudite, au Yémen, et au Koweït.…”

Section: Physiopathologieunclassified