Skip to main content
. Author manuscript; available in PMC: 2019 Nov 13.
Published in final edited form as: J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195–204. doi: 10.1515/jpem-2017-0284

Table 2. Mutation and ethnicity details of PNDM patients.

Patient No. Ethnicity Type Gene Location Nucleotide variant Protein Effect
3 Arab/African HO GCK Exon 3 c.292C>T p.Glu98Ter
4 Arab/African HO GCK Exon 3 c.292C>T p.Glu98Ter
5 Arab/African HO GCK Exon 3 c.292C>T p.Glu98Ter
6 Arab/African HO GCK Exon 3 c.292C>T p.Glu98Ter
7 Arab/African HO GCK Exon 3 c.292C>T p.Glu98Ter
8 Arab/African HO GCK Exon 7 c.781G>A p.Gly261Arg
9 Arab/African HO GCK Exon 7 c.781G>A p.Gly261Arg
10 Balushi HR KCNJ11 Exon1 c.175G> A p.Val59Met
11 Arab HO SLC2A2 Exon9 c.1127T>G p.Met376Arg
12 Arab HO SLC2A2 Exon9 c.1127T>G p.Met376Arg
13 Arab HO SLC2A2 Exon9 c.1127T>G p.Met376Arg
14 African HO IL2RA Exon5 c.418T>C p.Tyr140His
15 Arab HO LRBA Exon 23 c.3188C>T p.Arg1271Ter