Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome].
Клинический случайСтатьяНазвание 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.
Liu Fang, Guo Li, Liang Rujia, Jiao Baoquan
Аннотация
OBJECTIVE: To explore the genetic basis for a newborn infant suspected with Donohue syndrome.
METHODS: Whole exome sequencing (WES) was used to screen potential variants in the child. Suspected variants were validated through Sanger sequencing and real-time PCR.
RESULTS: The child was found to carry two heterozygous variants in the INSR gene, including c.3258+4(IVS17)A>G and deletion of exon 2, which were respectively inherited from her mother and father.
CONCLUSION: The compound heterozygous variants of the INSR gene probably underlie the disease in this patient.
METHODS: Whole exome sequencing (WES) was used to screen potential variants in the child. Suspected variants were validated through Sanger sequencing and real-time PCR.
RESULTS: The child was found to carry two heterozygous variants in the INSR gene, including c.3258+4(IVS17)A>G and deletion of exon 2, which were respectively inherited from her mother and father.
CONCLUSION: The compound heterozygous variants of the INSR gene probably underlie the disease in this patient.