Gene/phenotype/disorder of interest
GHSR (OMIM*601898)
Abstract
Biallelic variants in GHSR, encoding the ghrelin receptor, are extremely rare and remain poorly characterized, with only a limited number of patients reported worldwide. We have identified two patients with short stature, due to a homozygous GHSR variant (NM_198407.2.611C>A), currently followed at Necker–Enfants Malades Hospital, Paris. Both patients present with impaired growth and GH deficiency, associated with low IGF-1 levels and delayed bone age; one patient also developed obesity. We propose a European collaboration to identify additional patients with biallelic GHSR variants. We aim to collect and analyze genomic, and detailed phenotypic data including pre- and postnatal growth, GH–IGF-1 axis abnormalities, response to GH treatment, as well as any associated feature. Please get in touch if you have any patients whom you would be interested in contributing to this collaborative study and joint publication.
Coordinating clinicians
- Lucile Riera-Navarro; riera-navarro.l@chu-nice.fr
- Valérie Cormier-Daire; valerie.cormier-daire@aphp.fr
Institution
Hôpital Necker-Enfants Malades, Paris
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N