Gene/phenotype/disorder under study
KMT2D/ BCAHH / OMIM #620186
Abstract
We identified a missense variant in exon 39 of KMT2D in a patient with hypoarathyroidism in a syndromic context.
Missense variants located specifically in exons 38 and 39 cause a genetic syndrome distinct from Kabuki syndrome, with a supposed gain-of-function effect and a different epigenetic signature, and are less frequently described (12 patients reported). This corresponds to BCAHH syndrome (Branchial abnormalities, Choanal atresia, Athelia, Hearing loss, Hypothyroidism).
We would like to collect clinical data from new patients to improve the clinical description of this syndrome.
Thank you for your collaboration.
Coordinating clinicians
Dr Mathilde Nizon – Mathilde.nizon@chu-nantes.fr
Pr Lucile Figuérès
Institution
Service de génétique médicale, CHU Nantes, Nantes, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No