دورية أكاديمية
أعرض في EDS

The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.

التفاصيل البيبلوغرافية
العنوان: The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
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.
References: Eur J Hum Genet. 2014 Jun;22(6):741-7. (PMID: 24105366)
Am J Med Genet. 1993 Apr 15;46(2):228-34. (PMID: 8484415)
Eur J Med Genet. 2020 Apr;63(4):103857. (PMID: 31978614)
Genet Med. 2018 Dec;20(12):1609-1616. (PMID: 29620724)
Mol Biol Cell. 2009 Mar;20(5):1302-11. (PMID: 19144821)
J Genet Hum. 1973 Jun;21(2):67-72. (PMID: 4805907)
J Biol Chem. 2012 Sep 7;287(37):31321-9. (PMID: 22829589)
DNA Res. 2000 Apr 28;7(2):143-50. (PMID: 10819331)
Mamm Genome. 2009 Aug;20(8):462-75. (PMID: 19669234)
Am J Med Genet A. 2004 Dec 1;131(2):127-33. (PMID: 15523657)
BMC Med Genet. 2012 Nov 09;13:104. (PMID: 23140272)
Am J Hum Genet. 2010 Feb 12;86(2):254-61. (PMID: 20137777)
Clin Dysmorphol. 2022 Jan 1;31(1):45-49. (PMID: 34538861)
J Glaucoma. 2020 Mar;29(3):236-238. (PMID: 31809395)
Am J Med Genet. 1997 Nov 28;73(1):67-71. (PMID: 9375925)
Am J Med Genet. 1982 Dec;13(4):469-77. (PMID: 7158646)
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
الوصف
تدمد:2073-4425
DOI:10.3390/genes13020236