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Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

BACKGROUND: Jansen‐de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnormalities...

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Autores principales: Li, Zhuoguang, Du, Caiqi, Zhang, Cai, Zhang, Mini, Ying, Yanqin, Liang, Yan, Luo, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057113/
https://www.ncbi.nlm.nih.gov/pubmed/31916397
http://dx.doi.org/10.1002/mgg3.1120
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author Li, Zhuoguang
Du, Caiqi
Zhang, Cai
Zhang, Mini
Ying, Yanqin
Liang, Yan
Luo, Xiaoping
author_facet Li, Zhuoguang
Du, Caiqi
Zhang, Cai
Zhang, Mini
Ying, Yanqin
Liang, Yan
Luo, Xiaoping
author_sort Li, Zhuoguang
collection PubMed
description BACKGROUND: Jansen‐de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnormalities, and dysmorphic features. Up to date, only 17 affected patients have been reported worldwide (no report in Chinese). METHODS: Here, we analyzed the clinical data and genetic test results of a Chinese patient with Jansen‐de Vries syndrome admitted in our hospital in May 2019. RESULTS: We report a 9‐month‐old boy carrying a pathogenic variant (c.1254_1255del, p.(V419Qfs*14)) in PPM1D exon 5, which can account for his phenotype. Most of his clinical features overlap with the reported phenotype, such as growth retardation, feeding difficulties, constipation, congenital abnormalities (such as atrial septal defect, ventricular septal defect, and patent ductus arteriosus), small hands and feet with broad forehead, low‐set posteriorly rotated ears, wide mouth with thin upper lip and pointed chin; however, he also presented with additional features like hepatomegaly and left inguinal hernia. CONCLUSION: This is the first published case of Jansen‐de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome.
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spelling pubmed-70571132020-03-12 Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome Li, Zhuoguang Du, Caiqi Zhang, Cai Zhang, Mini Ying, Yanqin Liang, Yan Luo, Xiaoping Mol Genet Genomic Med Clinical Reports BACKGROUND: Jansen‐de Vries syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the last and penultimate exons of the PPM1D gene. It is characterized by delayed psychomotor development, intellectual disability with speech delay, behavioral abnormalities, and dysmorphic features. Up to date, only 17 affected patients have been reported worldwide (no report in Chinese). METHODS: Here, we analyzed the clinical data and genetic test results of a Chinese patient with Jansen‐de Vries syndrome admitted in our hospital in May 2019. RESULTS: We report a 9‐month‐old boy carrying a pathogenic variant (c.1254_1255del, p.(V419Qfs*14)) in PPM1D exon 5, which can account for his phenotype. Most of his clinical features overlap with the reported phenotype, such as growth retardation, feeding difficulties, constipation, congenital abnormalities (such as atrial septal defect, ventricular septal defect, and patent ductus arteriosus), small hands and feet with broad forehead, low‐set posteriorly rotated ears, wide mouth with thin upper lip and pointed chin; however, he also presented with additional features like hepatomegaly and left inguinal hernia. CONCLUSION: This is the first published case of Jansen‐de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome. John Wiley and Sons Inc. 2020-01-08 /pmc/articles/PMC7057113/ /pubmed/31916397 http://dx.doi.org/10.1002/mgg3.1120 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Clinical Reports
Li, Zhuoguang
Du, Caiqi
Zhang, Cai
Zhang, Mini
Ying, Yanqin
Liang, Yan
Luo, Xiaoping
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title_full Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title_fullStr Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title_full_unstemmed Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title_short Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
title_sort novel truncating variant of ppm1d penultimate exon in a chinese patient with jansen‐de vries syndrome
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057113/
https://www.ncbi.nlm.nih.gov/pubmed/31916397
http://dx.doi.org/10.1002/mgg3.1120
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