A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS) is an exceptionally rare disorder resulting from a heterozygous variant in the C-terminal binding protein 1 (CTBP1) gene. To date, a mere two variants (14 patients) have been documented on a global scale. The aim of th...

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Bibliographic Details
Main Authors: Qiang Zhang, Yusi Liu, Xuan Liu, Yue Zhao, Jihong Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
C-terminal binding protein 1 (CTBP1)
HADDTS
de novo variant
whole-exome sequencing
clinical heterogeneity
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1344682/full

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