Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children. Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and an...

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Autores principales: Zhang, Li-Ping, Jia, Yu, Wang, Yu-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500051/
https://www.ncbi.nlm.nih.gov/pubmed/34631621
http://dx.doi.org/10.3389/fped.2021.722105
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author Zhang, Li-Ping
Jia, Yu
Wang, Yu-Ping
author_facet Zhang, Li-Ping
Jia, Yu
Wang, Yu-Ping
author_sort Zhang, Li-Ping
collection PubMed
description Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children. Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and analyzed. Results: The onset age of all four cases was at early infancy, and they presented as episodic binocular upward gaze with mild growth retardation. Two patients each carried a novel de novo variant in the CACNA1A gene, c.4046C>T (p.R1349X), and c.4415C>T (p.S1472L). Conclusion: Patients with infantile-onset paroxysmal binocular upward gaze should be considered to diagnose as PTU.
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spelling pubmed-85000512021-10-09 Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze Zhang, Li-Ping Jia, Yu Wang, Yu-Ping Front Pediatr Pediatrics Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children. Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and analyzed. Results: The onset age of all four cases was at early infancy, and they presented as episodic binocular upward gaze with mild growth retardation. Two patients each carried a novel de novo variant in the CACNA1A gene, c.4046C>T (p.R1349X), and c.4415C>T (p.S1472L). Conclusion: Patients with infantile-onset paroxysmal binocular upward gaze should be considered to diagnose as PTU. Frontiers Media S.A. 2021-09-24 /pmc/articles/PMC8500051/ /pubmed/34631621 http://dx.doi.org/10.3389/fped.2021.722105 Text en Copyright © 2021 Zhang, Jia and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zhang, Li-Ping
Jia, Yu
Wang, Yu-Ping
Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title_full Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title_fullStr Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title_full_unstemmed Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title_short Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
title_sort identification of two de novo variants of cacna1a in pediatric chinese patients with paroxysmal tonic upgaze
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500051/
https://www.ncbi.nlm.nih.gov/pubmed/34631621
http://dx.doi.org/10.3389/fped.2021.722105
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