Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

Abstract

Clinical variability in Stickler syndrome is well known,6 14 15 but correlations with specific mutations are scarce. We report a novel COL2A1 gene mutation found in a patient with flat face, cleft palate, myopia, and hearing loss (Stickler syndrome) and unexpectedly also in her father and her paternal grandmother who were considered to be healthy. The patient is the first child of healthy, non-consanguineous Swiss parents. The pregnancy was uneventful and she was delivered at term by caesarean section because of breech position. Birth Show more