دورية أكاديمية
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
العنوان: | The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome. |
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المؤلفون: | Massadeh S; Developmental 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 Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; Saudi Human Genome Satellite Laboratory at King Abdulaziz Medical City, King Abdulaziz City for Science and Technology (KACST), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia., Alhabshan F; Department 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 Arabia., AlSudairi HN; Developmental 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 Arabia., Alkwai S; Developmental 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 Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Alsuwailm M; Developmental 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 Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Kabbani MS; Department 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 Arabia., Chaikhouni F; Department 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 Arabia., Alaamery M; Developmental 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 Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; Saudi Human Genome Satellite Laboratory at King Abdulaziz Medical City, King Abdulaziz City for Science and Technology (KACST), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia. |
المصدر: | Genes [Genes (Basel)] 2022 Jan 27; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 27. |
نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Basel : MDPI |
مواضيع طبية MeSH: | Craniofacial Abnormalities*/genetics , Heart Defects, Congenital*/genetics , Osteochondrodysplasias*/congenital , Osteochondrodysplasias*/genetics, Adaptor Proteins, Signal Transducing/genetics ; Developmental Disabilities/genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Podosomes/metabolism ; Podosomes/pathology |
مستخلص: | 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. |
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فهرسة مساهمة: | Keywords: Frank–Ter Haar syndrome; SH3PXD2B; missense point mutation; whole-exome sequencing |
المشرفين على المادة: | 0 (Adaptor Proteins, Signal Transducing) 0 (SH3PXD2B protein, human) |
SCR Disease Name: | Ter Haar syndrome |
تواريخ الأحداث: | Date Created: 20220225 Date Completed: 20220425 Latest Revision: 20220531 |
رمز التحديث: | 20221213 |
مُعرف محوري في PubMed: | PMC8872394 |
DOI: | 10.3390/genes13020236 |
PMID: | 35205281 |
قاعدة البيانات: | MEDLINE |
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