Stickler syndrome in the Czech Republic:
phenotypic variability and genetic heterogeneity

Česká verzia

Authors: Čopíková J. ¹; Katra R. ²; Pourová Kremlíková R. ¹
Authors place of work: Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole ¹; Klinika ušní, nosní a krční 2. LF UK a FN v Motole ²
Published in the journal: Otorinolaryngol Foniatr, 70, 2021, No. 1, pp. 39-46.
Category: Review Article
doi: https://doi.org/10.48095/ccorl202139

Summary

Stickler syndrome (STL) is a progressive multisystemic disorder of connective tissue with an incidence of 1:7,500 newborns, which is probably underestimated due to its considerable clinical and genetic heterogeneity. STL symptoms include cleft palate or the Pierre-Robin sequence, hearing and/ or vision impairment, namely early high myopia and spontaneous retinal detachment, skeletal dysplasia, and a characteristic facial appearance, including a flat profile, protruding eyes, and micrognathia. STL symptoms show high inter- and even intrafamilial phenotypical variability. Variants in seven different collagen genes can cause STL. Autosomal dominant (AD) type 1 caused by a defect in the COL2A1 gene is the most common form of STL (80–90%); AD type 2 (involving COL11A1 gene defects) is much less common (10–20%). The third AD type and all autosomal recessive types are extremely rare. A genetically confirmed diagnosis of STL facilitates early treatment, prevention, and an accurate genetic risk estimation of STL in the family.

Keywords:

Stickler syndrome – collagen – myopia – Retinal detachment – Pierre-Robin sequence – hearing impairment – COL2A1

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