Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

Publication Date:
2018-04-28
Publisher:
BMJ Publishing Group
Print ISSN:
0022-2593
Electronic ISSN:
1468-6244
Topics:
Medicine
Keywords:
Genetics
Published by:
http://www.bmj.com/
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autor Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
beschreibung Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2 -related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
citation_standardnr 6246593
datenlieferant ipn_articles
feed_id 5627
feed_publisher BMJ Publishing Group
feed_publisher_url http://www.bmj.com/
insertion_date 2018-04-28
journaleissn 1468-6244
journalissn 0022-2593
publikationsjahr_anzeige 2018
publikationsjahr_facette 2018
publikationsjahr_intervall 7984:2015-2019
publikationsjahr_sort 2018
publisher BMJ Publishing Group
quelle Journal of Medical Genetics
relation http://jmg.bmj.com/cgi/content/short/55/5/316?rss=1
schlagwort Genetics
search_space articles
shingle_author_1 Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
shingle_author_2 Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
shingle_author_3 Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
shingle_author_4 Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
shingle_catch_all_1 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Genetics
Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2 -related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
BMJ Publishing Group
0022-2593
00222593
1468-6244
14686244
shingle_catch_all_2 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Genetics
Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2 -related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
BMJ Publishing Group
0022-2593
00222593
1468-6244
14686244
shingle_catch_all_3 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Genetics
Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2 -related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
BMJ Publishing Group
0022-2593
00222593
1468-6244
14686244
shingle_catch_all_4 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Genetics
Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2 -related disorders is expanded to include growth hormone deficiency as an important and treatable complication.
Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., Axford, M. M., Londero, V., Moalem, S., Orr, J., Rossignol, F., Lopes, F. D., Gauthier, J., Alos, N., Rupps, R., McKinnon, M., Adam, S., Nowaczyk, M. J. M., Walker, S., Scherer, S. W., Nassif, C., Hamdan, F. F., Deal, C. L., Soucy, J.-F., Weksberg, R., Macleod, P., Michaud, J. L., Chitayat, D.
BMJ Publishing Group
0022-2593
00222593
1468-6244
14686244
shingle_title_1 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
shingle_title_2 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
shingle_title_3 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
shingle_title_4 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
timestamp 2025-06-30T23:34:36.819Z
titel Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
titel_suche Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
topic WW-YZ
uid ipn_articles_6246593