A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
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2021Author
Kaygusuz, EmrahKhayyat, 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
Hassan, MJ
Thiele, H
Tinschert, S
Eichinger, L
Höning, S
Baig, SM
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Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., ... & Hussain, M. S. (2021). A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical Genetics.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.