Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism. Parental low-level (<10%) germline mosaicism in the CREBBP-associated RSTS family has not been reported. H...

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Bibliographic Details
Main Authors: Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei, Jianzhu Wu, Peizhi Huang, Yi Zhou, Yanmin Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Genetics
Subjects:
CREBBP
germline mosaicism
Rubinstein-Taybi syndrome
next-generation sequencing
RNA sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.640992/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.640992/full

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