Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review
<h3>Background</h3><p dir="ltr">Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with...
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2022
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| _version_ | 1864513520262971392 |
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| author | Graeme E. Glass (17545758) |
| author2 | Shiyas Mohammedali (15220171) Bran Sivakumar (6819863) Mitchell A. Stotland (15220174) Faisal Abdulkader (15220177) Debra O. Prosser (15220180) Donald R. Love (14151258) |
| author2_role | author author author author author author |
| author_facet | Graeme E. Glass (17545758) Shiyas Mohammedali (15220171) Bran Sivakumar (6819863) Mitchell A. Stotland (15220174) Faisal Abdulkader (15220177) Debra O. Prosser (15220180) Donald R. Love (14151258) |
| author_role | author |
| dc.creator.none.fl_str_mv | Graeme E. Glass (17545758) Shiyas Mohammedali (15220171) Bran Sivakumar (6819863) Mitchell A. Stotland (15220174) Faisal Abdulkader (15220177) Debra O. Prosser (15220180) Donald R. Love (14151258) |
| dc.date.none.fl_str_mv | 2022-12-30T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12887-022-03803-3 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Poland-M_bius_syndrome_a_case_report_implicating_a_novel_mutation_of_the_PLXND1_gene_and_literature_review/25434736 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Clinical sciences Neurosciences Möbius Moebius Poland syndrome Symbrachydactyly Pectoralis hypoplasia Case report |
| dc.title.none.fl_str_mv | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.</p><h3>Case presentation</h3><p dir="ltr">We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.</p><h3>Conclusions</h3><p dir="ltr">This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland’s syndromes.</p><h3>Level of evidence</h3><p dir="ltr">Level V, Descriptive Study.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Pediatrics<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12887-022-03803-3" target="_blank">https://dx.doi.org/10.1186/s12887-022-03803-3</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_b02b94fec6760512daf2cae8d1b7fd4b |
| identifier_str_mv | 10.1186/s12887-022-03803-3 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25434736 |
| publishDate | 2022 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature reviewGraeme E. Glass (17545758)Shiyas Mohammedali (15220171)Bran Sivakumar (6819863)Mitchell A. Stotland (15220174)Faisal Abdulkader (15220177)Debra O. Prosser (15220180)Donald R. Love (14151258)Biomedical and clinical sciencesClinical sciencesNeurosciencesMöbiusMoebiusPoland syndromeSymbrachydactylyPectoralis hypoplasiaCase report<h3>Background</h3><p dir="ltr">Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.</p><h3>Case presentation</h3><p dir="ltr">We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.</p><h3>Conclusions</h3><p dir="ltr">This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland’s syndromes.</p><h3>Level of evidence</h3><p dir="ltr">Level V, Descriptive Study.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Pediatrics<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12887-022-03803-3" target="_blank">https://dx.doi.org/10.1186/s12887-022-03803-3</a></p>2022-12-30T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12887-022-03803-3https://figshare.com/articles/journal_contribution/Poland-M_bius_syndrome_a_case_report_implicating_a_novel_mutation_of_the_PLXND1_gene_and_literature_review/25434736CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/254347362022-12-30T03:00:00Z |
| spellingShingle | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review Graeme E. Glass (17545758) Biomedical and clinical sciences Clinical sciences Neurosciences Möbius Moebius Poland syndrome Symbrachydactyly Pectoralis hypoplasia Case report |
| status_str | publishedVersion |
| title | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| title_full | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| title_fullStr | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| title_full_unstemmed | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| title_short | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| title_sort | Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review |
| topic | Biomedical and clinical sciences Clinical sciences Neurosciences Möbius Moebius Poland syndrome Symbrachydactyly Pectoralis hypoplasia Case report |