MedElevator
Войти в исследования Journal of medical genetics · 2006
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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.
Richardson R J, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon M J
Аннотация
BACKGROUND: Oculodentodigital syndrome (ODD) is a pleiotropic congenital disorder characterised by abnormalities of the face, eyes, dentition, and limbs. ODD, which is inherited as an autosomal dominant trait, results from missense mutations in the gap junction protein connexin 43.
OBJECTIVE: To analyse a family with a history of ODD which is inherited in an autosomal recessive manner
RESULTS: ODD in this family resulted from the homozygous mutation R33X in the first transmembrane domain of connexin 43.
CONCLUSIONS: The findings provide clear genetic evidence that ODD can be inherited in an autosomal recessive manner and that a dominant negative mechanism underlies autosomal dominant ODD.
OBJECTIVE: To analyse a family with a history of ODD which is inherited in an autosomal recessive manner
RESULTS: ODD in this family resulted from the homozygous mutation R33X in the first transmembrane domain of connexin 43.
CONCLUSIONS: The findings provide clear genetic evidence that ODD can be inherited in an autosomal recessive manner and that a dominant negative mechanism underlies autosomal dominant ODD.