Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing
Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology re...
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| Format: | Article |
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MDPI AG
2021-04-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/4/557 |
| _version_ | 1797538005025554432 |
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| author | Maria Isabel Alvarez-Mora Jordi Corominas Christian Gilissen Aurora Sanchez Irene Madrigal Laia Rodriguez-Revenga |
| author_facet | Maria Isabel Alvarez-Mora Jordi Corominas Christian Gilissen Aurora Sanchez Irene Madrigal Laia Rodriguez-Revenga |
| author_sort | Maria Isabel Alvarez-Mora |
| collection | DOAJ |
| description | Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in <i>TRAPPC9</i> gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing. |
| first_indexed | 2024-03-10T12:24:18Z |
| format | Article |
| id | doaj.art-a210a584701e49d484fc8c0da357b2d8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T12:24:18Z |
| publishDate | 2021-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-a210a584701e49d484fc8c0da357b2d82023-11-21T15:10:58ZengMDPI AGGenes2073-44252021-04-0112455710.3390/genes12040557Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome SequencingMaria Isabel Alvarez-Mora0Jordi Corominas1Christian Gilissen2Aurora Sanchez3Irene Madrigal4Laia Rodriguez-Revenga5Department of Biochemistry and Molecular Genetics, Hospital Clinic, 08036 Barcelona, SpainDepartment of Human Genetics, Radboud UMC, 6525 GA Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud UMC, 6525 GA Nijmegen, The NetherlandsDepartment of Biochemistry and Molecular Genetics, Hospital Clinic, 08036 Barcelona, SpainDepartment of Biochemistry and Molecular Genetics, Hospital Clinic, 08036 Barcelona, SpainDepartment of Biochemistry and Molecular Genetics, Hospital Clinic, 08036 Barcelona, SpainAdvances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology remains elusive in close to 50% of cases, even in those families with multiple affected individuals, strongly hinting at a genetic cause. Here we present a case report of two siblings affected with severe ID and other comorbidities, who embarked on a genetic testing odyssey until diagnosis was reached by using whole genome sequencing (WGS). WGS identified a maternally inherited novel missense variant (NM_031466.7:c.1037G > A; p.Gly346Glu) and a paternally inherited 90 kb intragenic deletion in <i>TRAPPC9</i> gene. This report demonstrates the clinical utility of WGS in patients who remain undiagnosed after whole exome sequencing.https://www.mdpi.com/2073-4425/12/4/557<i>TRAPPC9</i>whole genome sequencingneurodevelopmental disordersneuropsychiatric disorderscompound heterozygous mutationsmissense mutation |
| spellingShingle | Maria Isabel Alvarez-Mora Jordi Corominas Christian Gilissen Aurora Sanchez Irene Madrigal Laia Rodriguez-Revenga Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing Genes <i>TRAPPC9</i> whole genome sequencing neurodevelopmental disorders neuropsychiatric disorders compound heterozygous mutations missense mutation |
| title | Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing |
| title_full | Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing |
| title_fullStr | Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing |
| title_full_unstemmed | Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing |
| title_short | Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing |
| title_sort | novel compound heterozygous mutation in i trappc9 i gene the relevance of whole genome sequencing |
| topic | <i>TRAPPC9</i> whole genome sequencing neurodevelopmental disorders neuropsychiatric disorders compound heterozygous mutations missense mutation |
| url | https://www.mdpi.com/2073-4425/12/4/557 |
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