Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN
Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse ge...
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| Veröffentlicht in: | Molecular genetics and genomics : MGG 2024-12, Vol.299 (1), p.55-55, Article 55 |
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| creator | Afridi, Tehseen Ullah Khan Fatima, Ambrin Satti, Humayoon Shafique Akram, Zaineb Yousafzai, Imran Khan Naeem, Wajahat Bin Fatima, Nasreen Ali, Asmat Iqbal, Zafar Khan, Ayaz Shahzad, Muhammad Liu, Chunyu Toft, Mathias Zhang, Feng Tariq, Muhammad Davis, Erica E. Khan, Tahir N. |
| description | Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in
RELN
and three recurrent variants in
VPS13B
,
DEGS1
, and
SPG11
. Overall, our study highlights the potential of ES as a tool for clinical diagnosis. |
| doi_str_mv | 10.1007/s00438-024-02149-y |
| format | Article |
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RELN
and three recurrent variants in
VPS13B
,
DEGS1
, and
SPG11
. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.</description><identifier>ISSN: 1617-4615</identifier><identifier>EISSN: 1617-4623</identifier><identifier>DOI: 10.1007/s00438-024-02149-y</identifier><identifier>PMID: 38771357</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Age ; Animal Genetics and Genomics ; Biochemistry ; Bioinformatics ; Biomedical and Life Sciences ; Cell Adhesion Molecules, Neuronal - genetics ; Child ; Child, Preschool ; Diagnosis ; Exome - genetics ; Exome Sequencing ; Female ; Genetic Association Studies - methods ; Genetic diversity ; Genetic engineering ; Genetic Predisposition to Disease ; Genomes ; Genomics ; genotype-phenotype correlation ; Genotypes ; Hospitals ; Human Genetics ; Humans ; Life Sciences ; Male ; Medicine ; Microbial Genetics and Genomics ; Microcephaly ; Mutation ; Nervous system ; Neurodevelopmental disorders ; Neurodevelopmental Disorders - genetics ; Original Article ; Pakistan ; Pediatrics ; Pedigree ; Performance evaluation ; peripheral nervous system ; Phenotypes ; Plant Genetics and Genomics ; Structure-function relationships ; Vesicular Transport Proteins - genetics</subject><ispartof>Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.55-55, Article 55</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c359t-b6af710813fdb497771061723c9325c11c27e07f1b6717ba4c6e6f236e634b893</cites><orcidid>0000-0003-2139-6633 ; 0000-0002-6387-8019 ; 0000-0003-1333-6104 ; 0000-0002-2412-8397 ; 0000-0003-3096-8795</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00438-024-02149-y$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00438-024-02149-y$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38771357$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Afridi, Tehseen Ullah Khan</creatorcontrib><creatorcontrib>Fatima, Ambrin</creatorcontrib><creatorcontrib>Satti, Humayoon Shafique</creatorcontrib><creatorcontrib>Akram, Zaineb</creatorcontrib><creatorcontrib>Yousafzai, Imran Khan</creatorcontrib><creatorcontrib>Naeem, Wajahat Bin</creatorcontrib><creatorcontrib>Fatima, Nasreen</creatorcontrib><creatorcontrib>Ali, Asmat</creatorcontrib><creatorcontrib>Iqbal, Zafar</creatorcontrib><creatorcontrib>Khan, Ayaz</creatorcontrib><creatorcontrib>Shahzad, Muhammad</creatorcontrib><creatorcontrib>Liu, Chunyu</creatorcontrib><creatorcontrib>Toft, Mathias</creatorcontrib><creatorcontrib>Zhang, Feng</creatorcontrib><creatorcontrib>Tariq, Muhammad</creatorcontrib><creatorcontrib>Davis, Erica E.</creatorcontrib><creatorcontrib>Khan, Tahir N.</creatorcontrib><title>Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN</title><title>Molecular genetics and genomics : MGG</title><addtitle>Mol Genet Genomics</addtitle><addtitle>Mol Genet Genomics</addtitle><description>Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in
RELN
and three recurrent variants in
VPS13B
,
DEGS1
, and
SPG11
. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.</description><subject>Age</subject><subject>Animal Genetics and Genomics</subject><subject>Biochemistry</subject><subject>Bioinformatics</subject><subject>Biomedical and Life Sciences</subject><subject>Cell Adhesion Molecules, Neuronal - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Diagnosis</subject><subject>Exome - genetics</subject><subject>Exome Sequencing</subject><subject>Female</subject><subject>Genetic Association Studies - methods</subject><subject>Genetic diversity</subject><subject>Genetic engineering</subject><subject>Genetic Predisposition to Disease</subject><subject>Genomes</subject><subject>Genomics</subject><subject>genotype-phenotype correlation</subject><subject>Genotypes</subject><subject>Hospitals</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medicine</subject><subject>Microbial Genetics and Genomics</subject><subject>Microcephaly</subject><subject>Mutation</subject><subject>Nervous system</subject><subject>Neurodevelopmental disorders</subject><subject>Neurodevelopmental Disorders - 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Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in
RELN
and three recurrent variants in
VPS13B
,
DEGS1
, and
SPG11
. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>38771357</pmid><doi>10.1007/s00438-024-02149-y</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-2139-6633</orcidid><orcidid>https://orcid.org/0000-0002-6387-8019</orcidid><orcidid>https://orcid.org/0000-0003-1333-6104</orcidid><orcidid>https://orcid.org/0000-0002-2412-8397</orcidid><orcidid>https://orcid.org/0000-0003-3096-8795</orcidid></addata></record> |
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| ispartof | Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.55-55, Article 55 |
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| subjects | Age Animal Genetics and Genomics Biochemistry Bioinformatics Biomedical and Life Sciences Cell Adhesion Molecules, Neuronal - genetics Child Child, Preschool Diagnosis Exome - genetics Exome Sequencing Female Genetic Association Studies - methods Genetic diversity Genetic engineering Genetic Predisposition to Disease Genomes Genomics genotype-phenotype correlation Genotypes Hospitals Human Genetics Humans Life Sciences Male Medicine Microbial Genetics and Genomics Microcephaly Mutation Nervous system Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Original Article Pakistan Pediatrics Pedigree Performance evaluation peripheral nervous system Phenotypes Plant Genetics and Genomics Structure-function relationships Vesicular Transport Proteins - genetics |
| title | Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN |
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