Gene/phenotype/disorder under study
*603456 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 2; DPH2
#620062 DIPHTHAMIDE DEFICIENCY SYNDROME 2; DEDSSH2
Abstract
Biallelic loss of function variants in the DPH2 gene have been associated with a syndromic form of intellectual disability, characterized by short stature, sparse and brittle hair, and craniofacial and limb anomalies. To date, only a few individuals have been reported in the literature, and the phenotypic spectrum remains incompletely defined.
We recently identified a 30-year-old woman with a clinical diagnosis of Hallermann-Streiff syndrome in childhood, in whom homozygosity for a pathogenic DPH2 variant was confirmed by trio exome sequencing. Her case, along with few others we have now collected, expands the known phenotype to include adult presentation and dilated cardiomyopathy, raising new questions about the natural history of this rare disorder.
We are initiating a collaborative effort to expand the clinical spectrum associated with DPH2 variants, gather data across ages, ethnic backgrounds, and clarify the natural history and potential late-onset complications.
If you have identified individuals with biallelic DPH2 variants, we would be very interested in connecting with you.
Coordinating clinicians
Marion AUBERT MUCCA – aubertmucca.m@chu-toulouse.fr
Amandine SMAIL – smail.a@chu-toulouse.fr
Institution
Medical Genetics Department, Toulouse Hospital, Toulouse, 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