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Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan, Feroz; Khan, Sarmir; Rana, Nehal; Rahim, Tariq; Arshad, Abida; Khan, Imtiaz; Ogaly, Hanan A; Ahmed, Dalia Abd El Moneim; Dera, Ayed A; Zaib, Sumera.
Afiliación
  • Khan F; Department of Zoology Wild Life and Fishries, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
  • Khan S; Center of Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
  • Rana N; Department of Basic and Applied Chemistry, Faculty of Science and Technology, University of Central Punjab, Lahore, Pakistan.
  • Rahim T; Department of Biosciences, COMSATS University, Islamabad, Pakistan.
  • Arshad A; Department of Zoology Wild Life and Fishries, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
  • Khan I; Manchester Institute of Biotechnology, The University of Manchester, Manchester, United Kingdom.
  • Ogaly HA; Chemistry Department, College of Science, King Khalid University, Abha, Saudi Arabia.
  • Ahmed DAEM; Biology Department, College of Science, King Khalid University, Abha, Saudi Arabia.
  • Dera AA; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia.
  • Zaib S; Department of Basic and Applied Chemistry, Faculty of Science and Technology, University of Central Punjab, Lahore, Pakistan.
J Biomol Struct Dyn ; : 1-18, 2024 Feb 07.
Article en En | MEDLINE | ID: mdl-38321911
ABSTRACT
Dwarfism is a medical term used to describe individuals with a height-vertex measurement that falls below two standard deviations (-2SD) or the third percentile for their gender and age. Normal development of growth is a complicated dynamic procedure that depends upon the coordination of different aspects involving diet, genetics, and biological aspects like hormones in equilibrium. Any severe or acute pathologic procedure may disturb the individual's normal rate of growth. In this research, we examined four (A-D) Pakistani consanguineous families that exhibited syndromic dwarfism, which was inherited in an autosomal recessive pattern. The genomic DNA of each family member was extracted by using phenol-chloroform and Kit methods. Whole Exome Sequencing (WES) of affected family members (IV-11, III-5, IV-4 and III-13) from each group was performed at the Department of Medical Genetics, University of Antwerp, Belgium. After filtering the exome data, the mutations in PPM1F, FGFR3, ERCC2, and PCNT genes were determined by Sanger sequencing of each gene by using specific primers. Afterward, FGFR3 was found to be a suitable drug target among all the mutations to treat achondroplasia also known as disproportionate dwarfism. BioSolveIT softwares were used to discover the lead active inhibitory molecule against FGFR3. This research will not only provide short knowledge to the concerned pediatricians, researchers, and family physicians for the preliminary assessment and management of the disorder but also provide a lead inhibitor for the treatment of disproportionate dwarfism.Communicated by Ramaswamy H. Sarma.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Biomol Struct Dyn Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Biomol Struct Dyn Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Reino Unido