Targeted syndrome under study
RMRP: Anauxetic dysplasia 1 (MIM#607095), Cartilage-hair hypoplasia (MIM#250250), Metaphyseal dysplasia without hypotrichosis (MIM#250460)
Abstract
RNA subunit of mitochondrial RNA processing endoribonuclease complex is encoded by RMRP which a noncoding RNA gene. Over 140 variants in the RMRP gene have been reported in patients with RMRP-related disorders. We asertained a family with two fetuses with lethal skeletal dysplasia and identified a bi-allelic variants in RMRP. The patients described so far predominantly were childerns and young adults. However, prenatal onset of clinical symptoms were rarely documented and genotype-phenotype correlation is poorly understood. We aim to further define the early prenatal phenotypic and genotypic spectrum of the disorder by gathering and comparing clinical and genetic data. We are interested in documented prenatal manifestations of RMRP related disorder.
Coordinating clinician
Prof. Dr. Isabel Filges, MD – Isabel.Filges@usb.ch
Dr. Radhakrishnan Periyasamy, PhD – radhakrishnan.periyasamy@usb.ch
Institution
Medical Genetics, University Hospital and University of Basel, Switzerland
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