Gene/phenotype/disorder of interest
LBX1 (OMIM: 604255) / Congenital central hypoventilation syndrome (ORPHA: 661)
Abstract
We are seeking additional patients with heterozygous (particularly de novo) LBX1 variants and congenital or childhood-onset central hypoventilation. We have identified a small number of unrelated patients with severe respiratory dysregulation and de novo LBX1 variants. These observations suggest that monoallelic LBX1 variants may cause a novel dominant form of central hypoventilation, distinct from both PHOX2B-associated congenital central hypoventilation syndrome and the more recently described recessive LBX1 form. We aim to define the clinical spectrum, genotype-phenotype correlation and underlying disease mechanisms through an international case series and ongoing functional studies. We welcome collaboration from clinicians able to share anonymised genetic and phenotypic data on individuals with heterozygous LBX1 variants, particularly where respiratory, autonomic, neurodevelopmental or sleep-related features are present.
Coordinating clinicians
Conor Reid; conor.reid4@nhs.net
Institution
Cambridge University Hospitals, UK
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? Y