DEMO Diabetes neonatal onset
Gene: NEUROG3
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: NEUROG3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS).Created: 11 Jan 2019, 4:27 p.m.
A further patient was reported by Rubio-Cabezas et al 2014 Diabetologia.Created: 29 May 2017, 8:34 a.m.
Publications
Comment when marking as ready: Marked as Ready: 29th May 2017.Created: 29 May 2017, 8:41 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review plus 3 published cases.Created: 29 May 2017, 8:41 a.m.
Greeley et al., review (PMID: 21993633) note that 3 patients originally reported with isolated diarrhea due to missense mutations in NEUROG3 (originally reported by Wang et al., 2006, PMID:16855267), later also developed insulin-requiring diabetes by 9 years of age.Created: 23 May 2017, 3:14 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:21378176, PMID:21490072).Created: 25 Apr 2017, 7:57 a.m.
PMID:21490072 (Pinnet et al., 2011) report a proband with neonatal diabetes and congenital malabsorptive diarrhea, with a novel homozygous nonsense mutation (E123X) in NEUROG3.Created: 25 Apr 2017, 7:57 a.m.
PMID:21378176 (Rubio-Cabezas et al., 2011) identified 2 compound heterozygous point mutations in NEUROG3 in a proband with permanent neonatal diabetes [c.82G>T (p.E28X) and c.404T>C (p.L135P)], each being inherited from an unaffected parent.Created: 24 Apr 2017, 3:02 p.m.
gene: NEUROG3 was added gene: NEUROG3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG3 were set to 21378176; 25120094; 21490072; 21993633 Phenotypes for gene: NEUROG3 were set to Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS); congenital malabsorptive diarrhea and neonatal diabetes; Permanent neonatal diabetes and enteric anendocrinosis