Journal of medical genetics · 2014
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Albaqumi Mamdouh, Alhabib Fatimah A, Shamseldin Hanan E, Mohammed Firdous, Alkuraya Fowzan S
Аннотация
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.
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.