Abstract | BACKGROUND: 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: 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.
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Authors | Mamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, Firdous Mohammed, Fowzan S Alkuraya |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 51
Issue 4
Pg. 271-4
(Apr 2014)
ISSN: 1468-6244 [Electronic] England |
PMID | 24421282
(Publication Type: Journal Article)
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Chemical References |
- Kir6.2 channel
- Potassium Channels, Inwardly Rectifying
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Topics |
- Base Sequence
- Congenital Hyperinsulinism
(complications, genetics)
- Family
- Female
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
(genetics)
- Pedigree
- Polymorphism, Single Nucleotide
(genetics)
- Potassium Channels, Inwardly Rectifying
(genetics)
- Rhabdomyolysis
(complications, genetics)
- Syndrome
- Young Adult
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