Targeted gene under study:
ARCN1 (OMIM #600820, ORPHA:659702)
Abstract
ARCN1-related syndrome is a rare genetic disorder caused by defective type I collagen transport. To date, only 21 cases were described with a wide clinical spectrum ranging from fetal death to a milder phenotype including intrauterine growth restriction, short stature and micrognathia. Further findings include rhizomelia, prematurity, developmental delays, congenital heart disease and transient liver dysfunction. Our longitudinal follow-up of a milder affected patient diagnosed prenatally raises the question of the extent to which we can predict the severity and postnatal outcome based on the prenatal phenotype and related genotype.
We are searching for further patients with ARCN1-related disorder to investigate the prenatal and postnatal phenotypes and prognosis of the condition.
Coordinating team
Dr. Jacqueline Ritz – jacqueline.ritz@usb.ch
Prof. Dr. Isabel Filges
Institution
Medical Genetics, University Hospital 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