Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Article
em En
| MEDLINE
| ID: mdl-29599419
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 ANDRESULTS:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrogripose
/
Hormônio do Crescimento
/
Proteínas
/
Deficiência Intelectual
Limite:
Adolescent
/
Adult
/
Child
/
Female
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Humans
/
Male
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2018
Tipo de documento:
Article