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

Clinical genetics

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.
PMID: 34270086
Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.

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...

Cite
Kaygusuz E, Khayyat AIA, Abdullah U, et al. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021;100(4):486-488doi: 10.1111/cge.14028.
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., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., & 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
Kaygusuz, Emrah, et al. "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clinical genetics vol. 100,4 (2021): 486-488. doi: https://doi.org/10.1111/cge.14028
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. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. PMID: 34270086.
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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.

Clinical genetics

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.
PMID: 34270086
Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16.

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...

Cite
Kaygusuz E, Khayyat AIA, Abdullah U, et al. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021;100(4):486-488doi: 10.1111/cge.14028.
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., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., & 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
Kaygusuz, Emrah, et al. "A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome." Clinical genetics vol. 100,4 (2021): 486-488. doi: https://doi.org/10.1111/cge.14028
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. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 2021 Oct;100(4):486-488. doi: 10.1111/cge.14028. Epub 2021 Jul 16. PMID: 34270086.
Copy Download .nbib Format: NLM
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.

American journal of medical genetics. Part A

Asif M, Mocanu ID, Abdullah U, Höhne W, Altmüller J, Makhdoom EUH, Thiele H, Baig SM, Nürnberg P, Graul-Neumann L, Hussain MS.
PMID: 34913263
Am J Med Genet A. 2021 Dec 16; doi: 10.1002/ajmg.a.62610. Epub 2021 Dec 16.

Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to cause ET. In continuation of...

Cite
Asif M, Mocanu ID, Abdullah U, et al. A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am J Med Genet A. 2021;doi: 10.1002/ajmg.a.62610.
Asif, M., Mocanu, I. D., Abdullah, U., Höhne, W., Altmüller, J., Makhdoom, E. U. H., Thiele, H., Baig, S. M., Nürnberg, P., Graul-Neumann, L., & Hussain, M. S. (2021). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. American journal of medical genetics. Part A, . https://doi.org/10.1002/ajmg.a.62610
Asif, Maria, et al. "A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family." American journal of medical genetics. Part A vol. (2021). doi: https://doi.org/10.1002/ajmg.a.62610
Asif M, Mocanu ID, Abdullah U, Höhne W, Altmüller J, Makhdoom EUH, Thiele H, Baig SM, Nürnberg P, Graul-Neumann L, Hussain MS. A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am J Med Genet A. 2021 Dec 16; doi: 10.1002/ajmg.a.62610. Epub 2021 Dec 16. PMID: 34913263.
Copy Download .nbib Format: NLM
Showing 1 to 3 of 3 entries