The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome
Frank–Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) t...
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MDPI AG
2022-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/2/236 |
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| author | Salam Massadeh Fahad Alhabshan Hadeel N. AlSudairi Sarah Alkwai Moneera Alsuwailm Mohamed S. Kabbani Farah Chaikhouni Manal Alaamery |
| author_facet | Salam Massadeh Fahad Alhabshan Hadeel N. AlSudairi Sarah Alkwai Moneera Alsuwailm Mohamed S. Kabbani Farah Chaikhouni Manal Alaamery |
| author_sort | Salam Massadeh |
| collection | DOAJ |
| description | Frank–Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C>G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS. |
| first_indexed | 2024-03-09T21:52:37Z |
| format | Article |
| id | doaj.art-396cfd4ab9094285b480848ed1f4c39b |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T21:52:37Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-396cfd4ab9094285b480848ed1f4c39b2023-11-23T20:03:43ZengMDPI AGGenes2073-44252022-01-0113223610.3390/genes13020236The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar SyndromeSalam Massadeh0Fahad Alhabshan1Hadeel N. AlSudairi2Sarah Alkwai3Moneera Alsuwailm4Mohamed S. Kabbani5Farah Chaikhouni6Manal Alaamery7Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi ArabiaDepartment of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi ArabiaDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi ArabiaDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi ArabiaDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi ArabiaDepartment of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi ArabiaDepartment of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi ArabiaDevelopmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi ArabiaFrank–Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia. The analysis revealed a homozygous missense variant, c.280C>G, in the SH3PXD2B gene, which cosegregates with the familial phenotype with a plausible autosomal-recessive mode of inheritance, indicating a potential disease-causing association. The SH3PXD2B gene encodes a TKS4 podosome adaptor protein that regulates the epidermal growth factor signaling pathway. This study validates the critical function of the TKS4 podosome protein by suggesting a common mechanism underlying the pathogenesis of FTHS.https://www.mdpi.com/2073-4425/13/2/236<i>SH3PXD2B</i>Frank–Ter Haar syndromemissense point mutationwhole-exome sequencing |
| spellingShingle | Salam Massadeh Fahad Alhabshan Hadeel N. AlSudairi Sarah Alkwai Moneera Alsuwailm Mohamed S. Kabbani Farah Chaikhouni Manal Alaamery The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome Genes <i>SH3PXD2B</i> Frank–Ter Haar syndrome missense point mutation whole-exome sequencing |
| title | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome |
| title_full | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome |
| title_fullStr | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome |
| title_full_unstemmed | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome |
| title_short | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome |
| title_sort | role of the disrupted podosome adaptor protein sh3pxd2b in frank ter haar syndrome |
| topic | <i>SH3PXD2B</i> Frank–Ter Haar syndrome missense point mutation whole-exome sequencing |
| url | https://www.mdpi.com/2073-4425/13/2/236 |
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