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Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene

Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder....

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Autores principales: Muthusamy, Babylakshmi, Bellad, Anikha, Girimaji, Satish Chandra, Pandey, Akhilesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005212/
https://www.ncbi.nlm.nih.gov/pubmed/33810051
http://dx.doi.org/10.3390/genes12030452
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author Muthusamy, Babylakshmi
Bellad, Anikha
Girimaji, Satish Chandra
Pandey, Akhilesh
author_facet Muthusamy, Babylakshmi
Bellad, Anikha
Girimaji, Satish Chandra
Pandey, Akhilesh
author_sort Muthusamy, Babylakshmi
collection PubMed
description Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder. The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla-Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the BCORL1 gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families.
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spelling pubmed-80052122021-03-29 Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene Muthusamy, Babylakshmi Bellad, Anikha Girimaji, Satish Chandra Pandey, Akhilesh Genes (Basel) Case Report Shukla-Vernon syndrome (SHUVER) is an extremely rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral anomalies, and dysmorphic features. Pathogenic variants in the BCORL1 gene have been identified as the molecular cause for this disorder. The BCORL1 gene encodes for BCL-6 corepressor-like protein 1, a transcriptional corepressor that is an integral component of protein complexes involved in transcription repression. In this study, we report an Indian family with two male siblings with features of Shukla-Vernon syndrome. The patients exhibited global developmental delay, intellectual disability, kyphosis, seizures, and dysmorphic features including bushy prominent eyebrows with synophrys, sharp beaked prominent nose, protuberant lower jaw, squint, and hypoplastic ears with fused ear lobes. No behavioral abnormalities were observed. Whole exome sequencing revealed a novel potentially pathogenic arginine to cysteine substitution (p.Arg1265Cys) in the BCORL1 protein. This is the second report of Shukla-Vernon syndrome with a novel missense variant in the BCORL1 gene. Our study confirms and expands the phenotypes and genotypes described previously for this syndrome and should aid in diagnosis and genetic counselling of patients and their families. MDPI 2021-03-22 /pmc/articles/PMC8005212/ /pubmed/33810051 http://dx.doi.org/10.3390/genes12030452 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Case Report
Muthusamy, Babylakshmi
Bellad, Anikha
Girimaji, Satish Chandra
Pandey, Akhilesh
Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title_full Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title_fullStr Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title_full_unstemmed Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title_short Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
title_sort shukla-vernon syndrome: a second family with a novel variant in the bcorl1 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005212/
https://www.ncbi.nlm.nih.gov/pubmed/33810051
http://dx.doi.org/10.3390/genes12030452
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