PT  - JOURNAL ARTICLE
AU  - Rebekah Jobling
AU  - Dimitri James Stavropoulos
AU  - Christian R Marshall
AU  - Cheryl Cytrynbaum
AU  - Michelle M Axford
AU  - Vanessa Londero
AU  - Sharon Moalem
AU  - Jennifer Orr
AU  - Francis Rossignol
AU  - Fatima Daniela Lopes
AU  - Julie Gauthier
AU  - Nathalie Alos
AU  - Rosemarie Rupps
AU  - Margaret McKinnon
AU  - Shelin Adam
AU  - Malgorzata J M Nowaczyk
AU  - Susan Walker
AU  - Stephen W Scherer
AU  - Christina Nassif
AU  - Fadi F Hamdan
AU  - Cheri L Deal
AU  - Jean-François Soucy
AU  - Rosanna Weksberg
AU  - Patrick Macleod
AU  - Jacques L Michaud
AU  - David Chitayat
TI  - Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <em>MAGEL2</em>-related disorders
AID  - 10.1136/jmedgenet-2017-105222
DP  - 2018 May 01
TA  - Journal of Medical Genetics
PG  - 316--321
VI  - 55
IP  - 5
4099  - http://jmg.bmj.com/content/55/5/316.short
4100  - http://jmg.bmj.com/content/55/5/316.full
SO  - J Med Genet2018 May 01; 55
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.