RT Journal Article SR Electronic T1 Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 316 OP 321 DO 10.1136/jmedgenet-2017-105222 VO 55 IS 5 A1 Rebekah Jobling A1 Dimitri James Stavropoulos A1 Christian R Marshall A1 Cheryl Cytrynbaum A1 Michelle M Axford A1 Vanessa Londero A1 Sharon Moalem A1 Jennifer Orr A1 Francis Rossignol A1 Fatima Daniela Lopes A1 Julie Gauthier A1 Nathalie Alos A1 Rosemarie Rupps A1 Margaret McKinnon A1 Shelin Adam A1 Malgorzata J M Nowaczyk A1 Susan Walker A1 Stephen W Scherer A1 Christina Nassif A1 Fadi F Hamdan A1 Cheri L Deal A1 Jean-François Soucy A1 Rosanna Weksberg A1 Patrick Macleod A1 Jacques L Michaud A1 David Chitayat YR 2018 UL http://jmg.bmj.com/content/55/5/316.abstract AB 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.