RGD Reference Report - A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation. - Rat Genome Database

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A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.

Authors: Albaqumi, Mamdouh  Alhabib, Fatimah A  Shamseldin, Hanan E  Mohammed, Firdous  Alkuraya, Fowzan S 
Citation: Albaqumi M, etal., J Med Genet. 2014 Apr;51(4):271-4. doi: 10.1136/jmedgenet-2013-102085. Epub 2014 Jan 13.
RGD ID: 12743624
Pubmed: PMID:24421282   (View Abstract at PubMed)
DOI: DOI:10.1136/jmedgenet-2013-102085   (Journal Full-text)


BACKGROUND: Congenital hyperinsulinism is a genetically heterogeneous disorder, but mutations in the components of the ATP-sensitive potassium channel K(ATP) account for more than a third of all isolated congenital hyperinsulinism cases. The association between congenital hyperinsulinism and rhabdomyolysis has not been reported.
OBJECTIVE: To describe significant skeletal muscle manifestations in a family with a novel mutation in KCNJ11 (encoding the Kir6.2 component of K(ATP)).
METHODS: Cross-sectional analysis of members of a large multiplex consanguineous family with congenital hyperinsulinism and rhabdomyolysis using autozygosity mapping and exome sequencing.
RESULTS: Five affected members of an extended consanguineous Saudi family were recruited along with relevant unaffected relatives. We were able to map an apparently novel syndrome of congenital hyperinsulinism and severe rhabdomyolysis leading to acute renal failure to a single locus that harbours KCNJ11 in which we identified a novel homozygous mutation.
CONCLUSIONS: This study expands the phenotype associated with KCNJ11 loss of function in humans and calls for increased awareness of rhabdomyolysis as a potential late-onset life-threatening complication of KCNJ11-related congenital hyperinsulinism.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Congenital Hyperinsulinism  IAGP 12743624DNA:missense mutation:exon:p.R34H (c.101G>A) (human)RGD 
Congenital Hyperinsulinism  ISOKCNJ11 (Homo sapiens)12743624; 12743624DNA:missense mutation:exon:p.R34H (c.101G>A) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Kcnj11  (potassium inwardly-rectifying channel, subfamily J, member 11)

Genes (Mus musculus)
Kcnj11  (potassium inwardly rectifying channel, subfamily J, member 11)

Genes (Homo sapiens)
KCNJ11  (potassium inwardly rectifying channel subfamily J member 11)


Additional Information