A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.
Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FL...
| Publicado en: | Journal of Basic & Clinical Physiology & Pharmacology Vol. 35; no. 3; pp. 181 - 188 |
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| Autores principales: | , , , , , , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
De Gruyter
May2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=178277222&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 178277222 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 07926855 50E5 jtl: Journal of Basic & Clinical Physiology & Pharmacology issn: 07926855 maglogo: N pubinfo: dt: May2024 vid: 35 iid: 3 pid: 1734 pub: De Gruyter place: , <Blank> artinfo: ui: 178277222 178277222 178277222 10.1515/jbcpp-2024-0031 178277222 ppf: 181 ppct: 7 formats: tig: atl: A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome. aug: au: Qasim, Hina Khan, Hayat Zeb, Humaira Ahmad, Akmal Ilyas, Muhammad Zahoor, Muhammad Umar, Muhammad Naveed Ullah, Riaz Ali, Essam A. affil: Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan sug: subj: Genes Carpal Bones Abnormalities Spondylitis, Ankylosing Complications Synostosis Complications Synostosis Familial and Genetic Tarsal Bones Abnormalities Rare Diseases Familial and Genetic Female Child Sequence Analysis Methods Bioinformatics Utilization Virulence Evaluation Mutation Proteins Analysis Dwarfism Hand Deformities, Acquired Familial and Genetic Fingers Abnormalities Clubfoot X-Rays Methods Equinus Deformity Cicatrix Molecular Diagnostic Techniques Biochemical Phenomena Genetic Variation Child: 6-12 years Female ab: Genetic disorders involved in skeleton system arise due to the disturbance in skeletal development, growth and homeostasis. Filamin B is an actin binding protein which is large dimeric protein which cross link actin cytoskeleton filaments into dynamic structure. A single nucleotide changes in the FLNB gene causes spondylocarpotarsal synostosis syndrome, a rare bone disorder due to which the fusion of carpels and tarsals synostosis occurred along with fused vertebrae. In the current study we investigated a family residing in north-western areas of Pakistan. The whole exome sequencing of proband was performed followed by Sanger sequencing of all family members of the subject to validate the variant segregation within the family. Bioinformatics tools were utilized to assess the pathogenicity of the variant. Whole Exome Sequencing revealed a novel variant (NM_001457: c.209C>T and p.Pro70Leu) in the FLNB gene which was homozygous missense mutation in the FLNB gene. The variant was further validated and visualized by Sanger sequencing and protein structure studies respectively as mentioned before. The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families. pubtype: Academic Journal doctype: case study pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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