A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Issue 4 (16th July 2021)

• Record Type: Journal Article
• Authors: Kaygusuz, Emrah; Khayyat, Arwa Ishaq A.; Abdullah, Uzma; Budde, Birgit Susanne; Asif, Maria; Ahmed, Ilyas; Makhdoom, Ehtisham Ul Haq; Sur‐Erdem, Ilknur; Baig, Jamshaid Mahmood; Khan, Muhammad Mohsin Ali; Toliat, Mohammad Reza; Becker, Christian; Anwar, Haseeb; Iqbal, Maria; Fischer, Sarah; Jameel, Muhammad; Sher, Muhammad; Tariq, Muhammad; Malik, Naveed Altaf; Noegel, Angelika A.; Hassan, Muhammad Jawad; Thiele, Holger; Tinschert, Sigrid; Eichinger, Ludwig; Höning, Stefan; Baig, Shahid Mahmood; Nürnberg, Peter; Hussain, Muhammad Sajid
• Is Part Of: Clinical genetics. Volume 100:Issue 4(2021)
• Page Start: 486
• Page End: 488
• Publication Date: 2021-07-16
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14028
• Languages: English
• ISSNs: 0009-9163

Abstract

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.