Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants

Targeted gene(s)/phenotype under study

P4HTM OMIM #614584/HIDEA syndrome OMIM #618493

Abstract

We are searching for patients with biallelic variants in the P4HTM gene. We have collected four novel HIDEA patients from four families with recessively inherited (biallelic) P4HTM variants. We would like to expand our cohort to include additional HIDEA patients to further delineate the phenotypic and genotypic spectrum of P4HTM-related disorder.

Coordinating clinicians/researchers

Dr Elisa Rahikkala

Contact: elisa.rahikkala@ppshp.fi

Institution

Department of Clinical Genetics, Oulu, Finland

Specific requirements beyond clinical data and genotype data sharing

• Re-analysis of DNA samples: No
• Resampling of patients: No
• Linked to a translational/basic research project:  No