Prague Med. Rep. 2019, 120, 124-130
https://doi.org/10.14712/23362936.2019.17
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
References
1. , G., Huber, C., El Hokayem, J., Caumes, R., Do Ngoc Thanh, C., David, A., Delezoide, A. L., Dieux-Coeslier, A., Estournet, B., Francannet, C., Kayirangwa, H., Lacaille, F., Le Bourgeois, M., Martinovic, J., Salomon, R., Sigaudy, S., Malan, V., Munnich, A., Le Merrer, M., Le Quan Sang, K. H., Cormier-Daire, V. (2013) Asphyxiating thoracic dysplasia: Clinical and molecular review of 39 families. J. Med. Genet. 50, 91–98.
<https://doi.org/10.1136/jmedgenet-2012-101282>
2. Chaloupka, A., Piherova, L., Grochova, I., Binova, J., Krejci, J., Spinarova, L., Stranecky, V., Kmoch, S., Kubanek, M. (2018) Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates. Biomed. Pap. Med. Fac. Univ. Palacky Olomouc Czech Repub. (Epub ahead of print)
3. , N., Goulet, M., Genevieve, D., Sznajer, Y., Martinovic, J., Smithson, S., Huber, C., Baujat, G., Flori, E., Tecco, L., Cavalcanti, D., Delezoide, A. L., Serre, V., Le Merrer, M., Munnich, A., Cormier-Daire, V. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am. J. Hum. Genet. 84, 706–711.
<https://doi.org/10.1016/j.ajhg.2009.04.016>
<PubMed>
4. , N., Wallmeier, J., Olbrich, H., Omran, H., Ozcelik, U. (2018) DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. Clin. Respir. J. 12, 1017–1020.
<https://doi.org/10.1111/crj.12620>
5. , C., Cormier-Daire, V. (2012) Ciliary disorder of the skeleton. Am. J. Med. Genet. C Semin. Med. Genet. 160C, 165–174.
<https://doi.org/10.1002/ajmg.c.31336>
6. , M., Arts, H. H., Bongers, E. M., Yap, Z., Oud, M. M., Antony, D., Duijkers, L., Emes, R. D., Stalker, J., Yntema, J. B., Plagnol, V., Hoischen, A., Gilissen, C., Forsythe, E., Lausch, E., Veltman, J. A., Roeleveld, N., Superti-Furga, A., Kutkowska-Kazmierczak, A., Kamsteeg, E. J., Elcioglu, N., van Maarle, M. C., Graul-Neumann, L. M., Devriendt, K., Smithson, S. F., Wellesley, D., Verbeek, N. E., Hennekam, R. C., Kayserili, H., Scambler, P. J., Beales, P. L., UK10K, Knoers, N. V., Roepman, R., Mitchison, H. M. (2013a) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J. Med. Genet. 50, 309–323.
<https://doi.org/10.1136/jmedgenet-2012-101284>
<PubMed>
7. , M., Vodopiutz, J., Christou-Savina, S., Cortes, C. R., McInerney-Leo, A. M., Emes, R. D., Arts, H. H., Tuysuz, B., D’Silva, J., Leo, P. J., Giles, T. C., Oud, M. M., Harris, J. A., Koopmans, M., Marshall, M., Elcioglu, N., Kuechler, A., Bockenhauer, D., Moore, A. T., Wilson, L. C., Janecke, A. R., Hurles, M. E., Emmet, W., Gardiner, B., Streubel, B., Dopita, B., Zankl, A., Kayserili, H., Scambler, P. J., Brown, M. A., Beales, P. L., Wicking, C., UK10K, Duncan, E. L., Mitchison, H. M. (2013b) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am. J. Hum. Genet. 93, 932–944.
<https://doi.org/10.1016/j.ajhg.2013.10.003>
<PubMed>
8. Vignerová, J., Riedlová, J., Bláha, P., Kobzová, J., Krejčovský, L., Brabec, M., Hrušková, M. (2006) 6th Nation-wide Anthropological Survey of Children and Adolescents 2001, Czech Republic. Faculty of Sciences, Charles University, and the National Institute of Public Health, Prague. (in Czech)
9. , W., Taylor, S. P., Ennis, H. A., Forlenza, K. N., Duran, I., Li, B., Sanchez, J. A. O., Nevarez, L., Nickerson, D. A., Bamshad, M., University of Washington Center for Mendelian Genomics, Lachman, R. S., Krakow, D., Cohn, D. H. (2018) Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum. Mutat. 39, 152–166.
<https://doi.org/10.1002/humu.23362>
<PubMed>
