A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

Autor:	Qasim H; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Khan H; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Zeb H; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Ahmad A; Centre for Human Genetics, 66934 Hazara University Mansehra , Mansehra, Pakistan., Ilyas M; Centre for Omic Sciences, Islamia College University Peshawar, Peshawar, Pakistan., Zahoor M; Department of Biochemistry, 66714 University of Malakand , Chakdara, Dir Lower, KPK, Pakistan., Umar MN; Department of Chemistry, 4591 University of Liverpool , Liverpool, UK., Ullah R; Department of Pharmacognosy, College of Pharmacy, 37850 King Saud University , Riyadh, Saudi Arabia., Ali EA; Department of Pharmaceutical Chemistry, 37850 College of Pharmacy King Saud University , Riyadh, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Journal of basic and clinical physiology and pharmacology [J Basic Clin Physiol Pharmacol] 2024 May 16; Vol. 35 (3), pp. 181-187. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).
DOI:	10.1515/jbcpp-2024-0031
Abstrakt:	Objectives: 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. Methods: 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. Results: 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. Conclusions: The findings have highlighted the importance of the molecular diagnosis in SCT (spondylocarpotarsal synostosis syndrome) for genetic risk counselling in consanguineous families. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu