Targeted gene and syndrome under study:
CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM# 619941)
MYMX (OMIM* 619912)
Abstract
Biallelic variants in MYMX (OMIM* 619912) have been associated with Carey-Fineman-Ziter syndrome-2 (OMIM# 619941).
So far, only two affected individuals from the same family have been reported in literature (PMID: 35642635).
We recently diagnosed a patient with MYMX-related Carey-Fineman-Ziter syndrome in our centre.
Through this call, we are looking to additional cases of MYMX-related Carey-Fineman-Ziter syndrome, in order to define the clinical phenotype and genotypic spectrum of this rare disorder.
Coordinating clinician
Luisa Marsili – luisa.marsili@chu-lille.fr
Institution
Clinical Genetics Department, Lille University Hospital
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