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      Patients with Congenital Limb Anomaly Show Short Telomere, Shutdown of Telomerase and Deregulated Expression of Various Telomere-Associated Proteins in Peripheral Blood Mononuclear Cells-A Case Series

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          Abstract

          Congenital limb anomalies are outcome of improper bone formation during embryonic development when cells divide, differentiate with high rate. So, telomerase activity is essential to maintain telomere length for such highly dividing cells. Here, we report four cases of congenital limb anomalies with detailed structures of limbs along with other clinical manifestations of age less than two years. We compared telomere length, expression of telomerase and telomere-associated genes of Peripheral Blood Mononuclear Cells (PBMC) in patient and four age-matched normal individual.

          Patient-1 was diagnosed with congenital limb hypogenesis ectrodactyly sequence, an autosomal dominant disorder, showing absence of digits and fibula in upper and lower limb respectively. Both mother and grandmother of Patient-1 showed similar hypogenesis of limbs. Patient-2 showed bilateral clenched hand with arthrogryposis, microcephaly and holoprosencephaly. Both Patient-3 and Patient-4 has no radius in upper limb. Additionally, Paient-3 showed right sided orbital Space Occupying Lesion (SOL) and Paranasal Sinuses (PNS) whereas Patient-4 showed fused kidney with fanconi anaemia. Furthermore, all the patients showed shorter telomere length, inactive telomerase and de-regulated expression of telomere-associated proteins in PBMC compared with age-matched control group.

          So, we can conclude that congenital limb anomalies may be linked with telomeropathy and a study with large number of samples is required to firmly establish such association.

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          Author and article information

          Journal
          J Clin Diagn Res
          J Clin Diagn Res
          Journal of Clinical and Diagnostic Research
          JCDR
          Journal of Clinical and Diagnostic Research : JCDR
          JCDR Research and Publications (P) Limited (Delhi, India )
          2249-782X
          0973-709X
          August 2017
          01 August 2017
          : 11
          : 8
          : GR01-GR06
          Affiliations
          [1 ] Senior Resident, Department of Paediatrics, Calcutta National Medical College and Hospital , Kolkata, West Bengal, India.
          [2 ] Resaerch Scholar, Department of Biochemistry and Biophysics, University of Kalyani , West Bengal, India.
          [3 ] RMO Cum Clinical Tutor, Department of Paediatrics, Calcutta National Medical College and Hospital , Kolkata, West Bengal, India.
          [4 ] Professor, Department of Paediatrics, Murshidabad Medical College , Berhampore, West Bengal, India.
          [5 ] Assistant Professor, Department of Biochemistry and Biophysics, University of Kalyani , West Bengal, India.
          Author notes
          NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR: Dr. Utpal Ghosh, Assistant Professor, Department of Biochemistry and Biophysics, University of Kalyani, Kalyani-741235, West Bengal, India. E-mail: utpal8ghosh@ 123456klyuniv.ac.in ; utpal8ghosh@ 123456gmail.com
          Article
          PMC5620797 PMC5620797 5620797
          10.7860/JCDR/2017/26960.10516
          5620797
          28511407
          © 2017 Journal of Clinical and Diagnostic Research
          Categories
          Genetics Section
          Case Series

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