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

Abstract

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.

• Authors: Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat
• Journal: Journal of medical genetics (J Med Genet) Vol. 55 Issue 5 Pg. 316-321 (05 2018) ISSN: 1468-6244 [Electronic] England
• PMID: 29599419 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Chemical References

• MAGEL2 protein, human
• Proteins
• Growth Hormone

Topics

• Adolescent
• Adult
• Arthrogryposis (genetics, physiopathology)
• Child
• Exome (genetics)
• Female
• Growth Hormone (deficiency, genetics)
• Humans
• Intellectual Disability (genetics, physiopathology)
• Male
• Pedigree
• Phenotype
• Proteins (genetics)
• Exome Sequencing
• Young Adult