Display options
Cite
Kaygusuz E, Khayyat AIA, Abdullah U, et al. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021;100(4):486-488doi: 10.1111/cge.14028.
Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., Makhdoom, E. U. H., Sur-Erdem, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., & Hussain, M. S. (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical genetics, 100(4), 486-488. https://doi.org/10.1111/cge.14028
Kaygusuz, Emrah, et al. "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clinical genetics vol. 100,4 (2021): 486-488. doi: https://doi.org/10.1111/cge.14028
Kaygusuz E, Khayyat AIA, Abdullah U, Budde BS, Asif M, Ahmed I, Makhdoom EUH, Sur-Erdem I, Baig JM, Khan MMA, Toliat MR, Becker C, Anwar H, Iqbal M, Fischer S, Jameel M, Sher M, Tariq M, Malik NA, Noegel AA, Hassan MJ, Thiele H, Tinschert S, Eichinger L, Höning S, Baig SM, Nürnberg P, Hussain MS. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. PMID: 34270086.
Copy Download .nbib Format: NLM
Share it on

Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.

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

Clinical genetics

Emrah Kaygusuz, Arwa Ishaq A Khayyat, Uzma Abdullah, Birgit Susanne Budde, Maria Asif, Ilyas Ahmed, Ehtisham Ul Haq Makhdoom, Ilknur Sur-Erdem, Jamshaid Mahmood Baig, Muhammad Mohsin Ali Khan, Mohammad Reza Toliat, Christian Becker, Haseeb Anwar, Maria Iqbal, Sarah Fischer, Muhammad Jameel, Muhammad Sher, Muhammad Tariq, Naveed Altaf Malik, Angelika A Noegel, Muhammad Jawad Hassan, Holger Thiele, Sigrid Tinschert, Ludwig Eichinger, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

Affiliations

  1. Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  2. Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  3. Molecular Biology and Genetics, Bilecik ?eyh Edebali University, Bilecik, Turkey.
  4. Biochemistry Department, King Saud University, Riyadh, Saudi Arabia.
  5. University Institute of Biochemistry and Biotechnology, PMAS-Arid Agriculture University, Rawalpindi, Pakistan.
  6. Institute for Cardiogenetics, University of Luebeck, Luebeck, Germany.
  7. Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  8. Department of Physiology, Government College University, Faisalabad, Pakistan.
  9. Department of Molecular Biology, Koc University School of Medicine, Istanbul, Turkey.
  10. Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan.
  11. Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
  12. Zentrum Medizinische Genetik, Medizinische Universität, Innsbruck, Austria.

PMID: 34270086 DOI: 10.1111/cge.14028

Abstract

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.

References

  1. Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W. A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. Hum Genet. 2008;123(1):77-82. https://doi.org/10.1007/s00439-007-0452-x - PubMed
  2. Mumtaz S, Yildiz E, Jabeen S, Khan A, Tolun A, Malik S. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 2015;167(12):3148-3152. https://doi.org/10.1002/ajmg.a.37299 - PubMed
  3. Budde BS, Namavar Y, Barth PG, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008;40(9):1113-1118. https://doi.org/10.1038/ng.204 - PubMed
  4. Chen PL, Liu F, Cai SN, et al. Inactivation of CtIP leads to early embryonic lethality mediated by G(1) restraint and to tumorigenesis haploid insufficiency. Mol Cell Biol. 2005;25(9):3535-3542. https://doi.org/10.1128/Mcb.25.9.3535-3542.2005 - PubMed

Publication Types

Grant support