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

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

doi:10.1111/cge.14028

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

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. NoegelMuhammad Jawad Hassan, Holger Thiele, Sigrid Tinschert, Ludwig Eichinger, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

Research output: Contribution to journal › Letter › peer-review

3 Citations (Scopus)

Original language	English
Pages (from-to)	486-488
Number of pages	3
Journal	Clinical Genetics
Volume	100
Issue number	4
DOIs	https://doi.org/10.1111/cge.14028
Publication status	Published - Oct 2021
Externally published	Yes

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10.1111/cge.14028

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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., ... 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

@article{27ec439e452649aea5487aa0fdfbf334,

title = "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome",

author = "Emrah Kaygusuz and Khayyat, {Arwa Ishaq A.} and Uzma Abdullah and Budde, {Birgit Susanne} and Maria Asif and Ilyas Ahmed and Makhdoom, {Ehtisham Ul Haq} and Ilknur Sur-Erdem and Baig, {Jamshaid Mahmood} and Khan, {Muhammad Mohsin Ali} and Toliat, {Mohammad Reza} and Christian Becker and Haseeb Anwar and Maria Iqbal and Sarah Fischer and Muhammad Jameel and Muhammad Sher and Muhammad Tariq and Malik, {Naveed Altaf} and Noegel, {Angelika A.} and Hassan, {Muhammad Jawad} and Holger Thiele and Sigrid Tinschert and Ludwig Eichinger and Stefan H{\"o}ning and Baig, {Shahid Mahmood} and Peter N{\"u}rnberg and Hussain, {Muhammad Sajid}",

note = "Funding Information: Funding was awarded by Koeln Fortune Program, University of Cologne (Muhammad Sajid Hussain) (381/2020) and the Center for Molecular Medicine Cologne (Muhammad Sajid Hussain and Peter N{\"u}rnberg) (2635/8029/01, 2635/8326/01).",

year = "2021",

month = oct,

doi = "10.1111/cge.14028",

language = "English",

volume = "100",

pages = "486--488",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "4",

}

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 2021, 'A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome', Clinical Genetics, vol. 100, no. 4, pp. 486-488. https://doi.org/10.1111/cge.14028

TY - JOUR

T1 - A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

AU - Kaygusuz, Emrah

AU - Khayyat, Arwa Ishaq A.

AU - Abdullah, Uzma

AU - Budde, Birgit Susanne

AU - Asif, Maria

AU - Ahmed, Ilyas

AU - Makhdoom, Ehtisham Ul Haq

AU - Sur-Erdem, Ilknur

AU - Baig, Jamshaid Mahmood

AU - Khan, Muhammad Mohsin Ali

AU - Toliat, Mohammad Reza

AU - Becker, Christian

AU - Anwar, Haseeb

AU - Iqbal, Maria

AU - Fischer, Sarah

AU - Jameel, Muhammad

AU - Sher, Muhammad

AU - Tariq, Muhammad

AU - Malik, Naveed Altaf

AU - Noegel, Angelika A.

AU - Hassan, Muhammad Jawad

AU - Thiele, Holger

AU - Tinschert, Sigrid

AU - Eichinger, Ludwig

AU - Höning, Stefan

AU - Baig, Shahid Mahmood

AU - Nürnberg, Peter

AU - Hussain, Muhammad Sajid

N1 - Funding Information: Funding was awarded by Koeln Fortune Program, University of Cologne (Muhammad Sajid Hussain) (381/2020) and the Center for Molecular Medicine Cologne (Muhammad Sajid Hussain and Peter Nürnberg) (2635/8029/01, 2635/8326/01).

PY - 2021/10

Y1 - 2021/10

UR - http://www.scopus.com/inward/record.url?scp=85110234298&partnerID=8YFLogxK

U2 - 10.1111/cge.14028

DO - 10.1111/cge.14028

M3 - Letter

C2 - 34270086

AN - SCOPUS:85110234298

SN - 0009-9163

VL - 100

SP - 486

EP - 488

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -

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

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