A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Autor: Kaygusuz E; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.; Molecular Biology and Genetics, Bilecik Şeyh Edebali University, Bilecik, Turkey., Khayyat AIA; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia., Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS-Arid Agriculture University, Rawalpindi, Pakistan., Budde BS; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Asif M; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany., Ahmed I; Institute for Cardiogenetics, University of Luebeck, Luebeck, Germany., Makhdoom EUH; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.; Department of Physiology, Government College University, Faisalabad, Pakistan., Sur-Erdem I; Department of Molecular Biology, Koc University School of Medicine, Istanbul, Turkey., Baig JM; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan., Khan MMA; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Toliat MR; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Becker C; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Anwar H; Department of Physiology, Government College University, Faisalabad, Pakistan., Iqbal M; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Fischer S; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany., Jameel M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Sher M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Tariq M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Malik NA; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Noegel AA; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany., Hassan MJ; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan., Thiele H; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Tinschert S; Zentrum Medizinische Genetik, Medizinische Universität, Innsbruck, Austria., Eichinger L; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany., Höning S; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany., Baig SM; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan., Nürnberg P; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2021 Oct; Vol. 100 (4), pp. 486-488. Date of Electronic Publication: 2021 Jul 16.
DOI: 10.1111/cge.14028
Abstrakt: Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808-1809delTA. We could show that this mutation impairs splicing resulting in two different abnormal transcripts. Finally, we could verify a shared haplotype among all four families and estimate the founder event to have occurred some 24 generations ago.
(© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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