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. Noegel

Muhammad 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

4 Citations (Scopus)

Original language	English (UK)
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 (UK)",

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 - https://www.scopus.com/pages/publications/85110234298

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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