Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

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ip2019v56n9p792.pdf (343.61 KB)
Date
2019-09
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Publisher
Indian Academy of Pediatrics
Abstract
Background:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics: A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message: We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.
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Keywords
Hypersomnia, Mutation, Whole-exome sequencing
Citation
Lingyan Qiao, Yusheng Liu, Juan Ge, Tang Li. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome. Indian Pediatrics. 2019 Sep; 56(9): 792-794
URI
https://imsear.searo.who.int/handle/123456789/199391
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Indian Pediatrics