Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chr...
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| Format: | Article |
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Shiraz University of Medical Sciences
2019-07-01
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| Series: | Iranian Journal of Medical Sciences |
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| Online Access: | http://ijms.sums.ac.ir/article_44945_4f890fa69883ee7631610f8b3b7db657.pdf |
| _version_ | 1818136135067500544 |
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| author | Estephania Candelo Diana Ramirez-Montaño Harry Pachajoa |
| author_facet | Estephania Candelo Diana Ramirez-Montaño Harry Pachajoa |
| author_sort | Estephania Candelo |
| collection | DOAJ |
| description | Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations.A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, MECP2 sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg).The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and MECP2 pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype. |
| first_indexed | 2024-12-11T09:35:35Z |
| format | Article |
| id | doaj.art-b365bc4993ae40f4a51a3f0d1926cbaa |
| institution | Directory Open Access Journal |
| issn | 0253-0716 1735-3688 |
| language | English |
| last_indexed | 2024-12-11T09:35:35Z |
| publishDate | 2019-07-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Medical Sciences |
| spelling | doaj.art-b365bc4993ae40f4a51a3f0d1926cbaa2022-12-22T01:12:52ZengShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-07161735-36882019-07-0144434735310.30476/ijms.2019.4494544945Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case ReportEstephania Candelo0Diana Ramirez-Montaño1Harry Pachajoa2Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, ColombiaCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, ColombiaCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, Colombia; and Department of Genetics, Fundación Valle del Lili, Cali, ColombiaRett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations.A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, MECP2 sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg).The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and MECP2 pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype.http://ijms.sums.ac.ir/article_44945_4f890fa69883ee7631610f8b3b7db657.pdfX-linked genetic diseaseDNA copy number variationsAutismRett syndromeExome sequencing |
| spellingShingle | Estephania Candelo Diana Ramirez-Montaño Harry Pachajoa Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report Iranian Journal of Medical Sciences X-linked genetic disease DNA copy number variations Autism Rett syndrome Exome sequencing |
| title | Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report |
| title_full | Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report |
| title_fullStr | Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report |
| title_full_unstemmed | Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report |
| title_short | Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report |
| title_sort | microduplication of xp22 31 and mecp2 pathogenic variant in a girl with rett syndrome a case report |
| topic | X-linked genetic disease DNA copy number variations Autism Rett syndrome Exome sequencing |
| url | http://ijms.sums.ac.ir/article_44945_4f890fa69883ee7631610f8b3b7db657.pdf |
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