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Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

A Norrie disease protein gene (NDP) variant, c.174 + 1G > A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The ch...

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Autores principales: Li, Haijun, Li, Zhiming, Wang, Degang, Chen, Chuanming, Chen, Zhiqiang, Wang, Jinhua, Xu, Chenxia, Dong, Xingsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412000/
https://www.ncbi.nlm.nih.gov/pubmed/36035112
http://dx.doi.org/10.3389/fgene.2022.870232
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author Li, Haijun
Li, Zhiming
Wang, Degang
Chen, Chuanming
Chen, Zhiqiang
Wang, Jinhua
Xu, Chenxia
Dong, Xingsheng
author_facet Li, Haijun
Li, Zhiming
Wang, Degang
Chen, Chuanming
Chen, Zhiqiang
Wang, Jinhua
Xu, Chenxia
Dong, Xingsheng
author_sort Li, Haijun
collection PubMed
description A Norrie disease protein gene (NDP) variant, c.174 + 1G > A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The child’s mother, who was pregnant at the time, was found to be a carrier of the identified pathogenic variant. To determine if the fetus carried the same disease-causing variant, prenatal examination and prenatal diagnosis were conducted. The fetus had biocular vitreous abnormalities and complete retinal abnormalities. Genetic testing showed that the fetus had maternally inherited the NDP gene variant found in the proband. It was concurrently confirmed that the NDP gene variant led to the deletion of 246 bp at the 3′ end of exon 2, resulting in the deletion of the initiation codon and the occurrence of disease. Our study suggests that the diagnosis of rare diseases through next-generation sequencing, combined with prenatal ultrasound and prenatal diagnosis, can help families with known familial genetic diseases. Furthermore, the findings of this study broaden the known genetic spectrum of Norrie disease.
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spelling pubmed-94120002022-08-27 Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation Li, Haijun Li, Zhiming Wang, Degang Chen, Chuanming Chen, Zhiqiang Wang, Jinhua Xu, Chenxia Dong, Xingsheng Front Genet Genetics A Norrie disease protein gene (NDP) variant, c.174 + 1G > A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The child’s mother, who was pregnant at the time, was found to be a carrier of the identified pathogenic variant. To determine if the fetus carried the same disease-causing variant, prenatal examination and prenatal diagnosis were conducted. The fetus had biocular vitreous abnormalities and complete retinal abnormalities. Genetic testing showed that the fetus had maternally inherited the NDP gene variant found in the proband. It was concurrently confirmed that the NDP gene variant led to the deletion of 246 bp at the 3′ end of exon 2, resulting in the deletion of the initiation codon and the occurrence of disease. Our study suggests that the diagnosis of rare diseases through next-generation sequencing, combined with prenatal ultrasound and prenatal diagnosis, can help families with known familial genetic diseases. Furthermore, the findings of this study broaden the known genetic spectrum of Norrie disease. Frontiers Media S.A. 2022-08-12 /pmc/articles/PMC9412000/ /pubmed/36035112 http://dx.doi.org/10.3389/fgene.2022.870232 Text en Copyright © 2022 Li, Li, Wang, Chen, Chen, Wang, Xu and Dong. 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
Li, Haijun
Li, Zhiming
Wang, Degang
Chen, Chuanming
Chen, Zhiqiang
Wang, Jinhua
Xu, Chenxia
Dong, Xingsheng
Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title_full Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title_fullStr Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title_full_unstemmed Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title_short Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
title_sort next-generation sequencing reveals a case of norrie disease in a child with bilateral ocular malformation
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412000/
https://www.ncbi.nlm.nih.gov/pubmed/36035112
http://dx.doi.org/10.3389/fgene.2022.870232
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