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. Author manuscript; available in PMC: 2021 Aug 9.
Published in final edited form as: Mol Genet Metab. 2016 Apr 16;118(2):92–99. doi: 10.1016/j.ymgme.2016.04.004

Table 1.

Reported sialuria patients.

# Gender GNE mRNA Varianta GNE Protein Variantb refSNP number in dbSNPc Inheritance Age in original report Estimated Current Age (2015) References
1 Maled c.788G>T p.R263L rs121908623 Unknown 3 y Deceasedd [2,1]
2 Female c.798C>T p.R266W rs121908621 Unknown 2 y 30 y [3,11]
3 Male c.797G>A p.R266Q rs121908622 Unknown 10 mo 27 y [10,13,11]
4 Male c.788G>T p.R263L rs121908623 Unknown 4.5 y 27 y [5,11]
5 Female c.797G>A p.R266Q rs121908622 Unknown 7.5 y 24 y [6]
6 Male c.797G>A p.R266Q rs121908622 Familial 4.5 y 19.5 y [7]; Patient 2 in current report
7 Female c.797G>A p.R266Q rs121908622 Unknown 34 y 47 y [7]; Patient 3 in current report
8 Male c.797G>A p.R266Q rs121908622 De novo 12 y 14 y Patient 1 in current report

Abbreviations: y, years; mo, months.

a

GenBank Accession number NM_005476.5 (GNE mRNA Variant 2). This GenBank Accession number was used for reporting al previous sialuria variants. Note that recent GNE nomenclature changes based on the longest mRNA variant have been proposed and may be used to report future sialuria variants [22].

b

GenBank Accession number NP_005467 (hGNE1 protein isoform).

c

As reported in dbSNP http://www.ncbi.nlm.nih.gov/SNP/.

d

Patient died at age 30 (car accident).