Article
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clinical genetics - 1 Oct 2021
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
Abstract excerpt
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...
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