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Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report

INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disa...

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Autores principales: Bogliş, Alina, Cosma, Adriana S., Tripon, Florin, Bãnescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437857/
https://www.ncbi.nlm.nih.gov/pubmed/32872024
http://dx.doi.org/10.1097/MD.0000000000021632
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author Bogliş, Alina
Cosma, Adriana S.
Tripon, Florin
Bãnescu, Claudia
author_facet Bogliş, Alina
Cosma, Adriana S.
Tripon, Florin
Bãnescu, Claudia
author_sort Bogliş, Alina
collection PubMed
description INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the OPHN1 gene. PATIENT CONCERNS: In this report, we present the clinical and molecular findings of a family affected by a mild XLID due to a deletion in the OPHN1 gene, exon 21, Xq12 region using Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The clinical features present in the family are a mild developmental delay, behavioral disturbances, facial dysmorphism, pes planus, nystagmus, strabismus, epilepsy, and occipital arachnoid cyst. INTERVENTIONS: The MLPA analysis was performed for investigation of the copy number variations within the X chromosome for the family. DIAGNOSIS AND OUTCOME: The MLPA analysis detected a deletion in the OPHN1 gene, exon 21 for the proband, and a heterozygous deletion for the probands mother. The deletion of the Xq12 region of maternal origin, including the exon 21 of the OPHN1 gene, confirmed for the probands nephew. LESSONS: Our findings emphasize the utility of the MLPA analysis to identify deletions in the OPHN1 gene responsible for syndromic XLID. Therefore, we suggest that MLPA analysis should be performed as an alternative diagnostic test for all patients with a mild intellectual disability associated or not with behavioral disturbances, facial dysmorphism, and brain anomalies.
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spelling pubmed-74378572020-09-02 Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report Bogliş, Alina Cosma, Adriana S. Tripon, Florin Bãnescu, Claudia Medicine (Baltimore) 6200 INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the OPHN1 gene. PATIENT CONCERNS: In this report, we present the clinical and molecular findings of a family affected by a mild XLID due to a deletion in the OPHN1 gene, exon 21, Xq12 region using Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The clinical features present in the family are a mild developmental delay, behavioral disturbances, facial dysmorphism, pes planus, nystagmus, strabismus, epilepsy, and occipital arachnoid cyst. INTERVENTIONS: The MLPA analysis was performed for investigation of the copy number variations within the X chromosome for the family. DIAGNOSIS AND OUTCOME: The MLPA analysis detected a deletion in the OPHN1 gene, exon 21 for the proband, and a heterozygous deletion for the probands mother. The deletion of the Xq12 region of maternal origin, including the exon 21 of the OPHN1 gene, confirmed for the probands nephew. LESSONS: Our findings emphasize the utility of the MLPA analysis to identify deletions in the OPHN1 gene responsible for syndromic XLID. Therefore, we suggest that MLPA analysis should be performed as an alternative diagnostic test for all patients with a mild intellectual disability associated or not with behavioral disturbances, facial dysmorphism, and brain anomalies. Lippincott Williams & Wilkins 2020-08-14 /pmc/articles/PMC7437857/ /pubmed/32872024 http://dx.doi.org/10.1097/MD.0000000000021632 Text en Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 6200
Bogliş, Alina
Cosma, Adriana S.
Tripon, Florin
Bãnescu, Claudia
Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title_full Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title_fullStr Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title_full_unstemmed Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title_short Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report
title_sort exon 21 deletion in the ophn1 gene in a family with syndromic x-linked intellectual disability: case report
topic 6200
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7437857/
https://www.ncbi.nlm.nih.gov/pubmed/32872024
http://dx.doi.org/10.1097/MD.0000000000021632
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