NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) AND Diabetes mellitus, permanent neonatal, with neurologic features

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009216.4

Allele description [Variation Report for NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)]

NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)

Gene:
KCNJ11:potassium voltage-gated channel subfamily J member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)
HGVS:
  • NC_000011.10:g.17387595C>A
  • NG_012446.1:g.6065G>T
  • NM_000525.3:c.497G>T
  • NP_000516.3:p.Cys166Phe
  • NC_000011.9:g.17409142C>A
Protein change:
C166F; CYS166PHE
Links:
OMIM: 600937.0015; dbSNP: 80356618
NCBI 1000 Genomes Browser:
rs80356618
Molecular consequence:
  • NM_000525.3:c.497G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diabetes mellitus, permanent neonatal, with neurologic features
Identifiers:
MedGen: C1833102

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029434OMIMno assertion criteria providedPathogenic
(Mar 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL, Siddiqui J, Ellard S.

Hum Mutat. 2006 Mar;27(3):220-31. Review.

PubMed [citation]
PMID:
16416420

Details of each submission

From OMIM, SCV000029434.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an infant with a severe form of permanent neonatal diabetes mellitus with neurologic features (PNDM; 606176), Gloyn et al. (2006) identified a heterozygous G-to-T transversion in the KCNJ11 gene, resulting in a cys166-to-phe (C166F) substitution. The infant had feeding problem from birth and was diagnosed with diabetes mellitus at age 3 months. She also had seizures with hypsarrhythmia, progressive neurologic deterioration, diffuse hypotonia, and dysmorphic facial features. She died from aspiration pneumonia at age 6 months. Gloyn et al. (2006) noted that the C166F mutation is predicted to result in a channel with a marked increase in open probability and reduced sensitivity to ATP, which would severely alter the function of the channel in brain, muscle, and nerves, in addition to pancreatic beta cells.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 5, 2017