ESPEYB17 1. Pituitary and Neuroendocrinology Update on the Genetics of Hypopituitarism (4 abstracts)
1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis
Gregory LC , Shah P , Sanner JRF , Arancibia M , Hurst J , Jones WD , Spoudeas H , Le Quesne Stabej P , Williams HJ , Ocaka LA , Loureiro C , Martinez-Aguayo A & Dattani MT
To read the full abstract: J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737–5750. doi: 10.1210/jc.2019-00631. PMID: 31504653.
This paper describes two genes and three syndromes that clinicians would probably like to know when treating patients with a syndromic form of panhypopituitarism. Heterozygous mutation in a maternally imprinted gene, MAGEL2, was described in four patients with variable phenotypes. Mutations in this same gene, located in the Prader-Willi syndrome region, have been previously implicated in complex Schaaf-Young and Chitayat-Hall syndromes, and the authors speculate that the two syndromes may in fact represent one entity with variable expressivity. Another gene implicated in pituitary hormone deficiency was L1CAM, which is a cell adhesion molecule that plays a role in neuronal migration and has been previously implicated in L1 syndrome. The bottom line of all this is quite simple and important: patients carrying mutations in either of these two genes display intriguing phenotypic similarities, namely pituitary hormone deficiencies (most commonly GHD), arthrogryposis (joint contractures), intellectual disability, and dysmorphic features. The authors conclude that patients with hypopituitarism and arthrogryposis should be assessed for mutations in MAGEL2 and L1 before proceeding to whole exome or whole genome sequencing.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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