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Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome

Arboleda−Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from birth up to the first few months after birth. In this study, a newb...

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Autores principales: Zeng, Feng, Yang, Yue, Xu, Zhaohui, Wang, Ziwen, Ke, Huan, Zhang, Jianhong, Dong, Tongtong, Yang, Wenming, Wang, Jiuxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641261/
https://www.ncbi.nlm.nih.gov/pubmed/36386811
http://dx.doi.org/10.3389/fgene.2022.990098
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author Zeng, Feng
Yang, Yue
Xu, Zhaohui
Wang, Ziwen
Ke, Huan
Zhang, Jianhong
Dong, Tongtong
Yang, Wenming
Wang, Jiuxiang
author_facet Zeng, Feng
Yang, Yue
Xu, Zhaohui
Wang, Ziwen
Ke, Huan
Zhang, Jianhong
Dong, Tongtong
Yang, Wenming
Wang, Jiuxiang
author_sort Zeng, Feng
collection PubMed
description Arboleda−Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from birth up to the first few months after birth. In this study, a newborn was diagnosed with ARTHS based on the clinical symptoms and a mutation c.3937G>A (p.Asp1313Asn) in KAT6A. The clinical manifestations, diagnosis, and treatment of the newborn with ARTHS were recorded during follow-up observations. The main symptoms of the proband at birth were asphyxia, involuntary breathing, low muscle tone, early feeding, movement difficulties, weak crying, weakened muscle tone of the limbs, and embrace reflex, and facial features were not obvious at birth. There was obvious developmental delay, as well as hypotonic and oro-intestinal problems in the first few months after birth. Mouse growth factor was used to nourish the brain nerves, and touching, kneading the back, passive movements of the limbs, and audio−visual stimulation were used for rehabilitation. We hope that this study expands the phenotypic spectrum of this syndrome to newborns and the library of KAT6A mutations that lead to ARTHS. Consequently, the data can be used as a basis for genetic counseling and in clinical and prenatal diagnosis for ARTHS prevention.
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spelling pubmed-96412612022-11-15 Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome Zeng, Feng Yang, Yue Xu, Zhaohui Wang, Ziwen Ke, Huan Zhang, Jianhong Dong, Tongtong Yang, Wenming Wang, Jiuxiang Front Genet Genetics Arboleda−Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from birth up to the first few months after birth. In this study, a newborn was diagnosed with ARTHS based on the clinical symptoms and a mutation c.3937G>A (p.Asp1313Asn) in KAT6A. The clinical manifestations, diagnosis, and treatment of the newborn with ARTHS were recorded during follow-up observations. The main symptoms of the proband at birth were asphyxia, involuntary breathing, low muscle tone, early feeding, movement difficulties, weak crying, weakened muscle tone of the limbs, and embrace reflex, and facial features were not obvious at birth. There was obvious developmental delay, as well as hypotonic and oro-intestinal problems in the first few months after birth. Mouse growth factor was used to nourish the brain nerves, and touching, kneading the back, passive movements of the limbs, and audio−visual stimulation were used for rehabilitation. We hope that this study expands the phenotypic spectrum of this syndrome to newborns and the library of KAT6A mutations that lead to ARTHS. Consequently, the data can be used as a basis for genetic counseling and in clinical and prenatal diagnosis for ARTHS prevention. Frontiers Media S.A. 2022-10-25 /pmc/articles/PMC9641261/ /pubmed/36386811 http://dx.doi.org/10.3389/fgene.2022.990098 Text en Copyright © 2022 Zeng, Yang, Xu, Wang, Ke, Zhang, Dong, Yang 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 Genetics
Zeng, Feng
Yang, Yue
Xu, Zhaohui
Wang, Ziwen
Ke, Huan
Zhang, Jianhong
Dong, Tongtong
Yang, Wenming
Wang, Jiuxiang
Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title_full Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title_fullStr Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title_full_unstemmed Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title_short Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
title_sort clinical manifestations and genetic analysis of a newborn with arboleda−tham syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641261/
https://www.ncbi.nlm.nih.gov/pubmed/36386811
http://dx.doi.org/10.3389/fgene.2022.990098
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