Email updates

Keep up to date with the latest news and content from Orphanet Journal of Rare Diseases and BioMed Central.

Open Access Review

Hearing impairment in Stickler syndrome: a systematic review

Frederic R E Acke1*, Ingeborg J M Dhooge1, Fransiska Malfait2 and Els M R De Leenheer1

Author Affiliations

1 Department of Otorhinolaryngology, 1P1, Ghent University / Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium

2 Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent, 9000, Belgium

For all author emails, please log on.

Orphanet Journal of Rare Diseases 2012, 7:84  doi:10.1186/1750-1172-7-84

Published: 30 October 2012

Abstract

Background

Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a systematic review of the literature to give an up-to-date overview of hearing loss in Stickler syndrome, and correlated it with the genotype.

Methods

English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. Prevalences of hearing loss are calculated and correlated with the different affected genes and type of mutation.

Results

313 patients (102 families) individually described in 46 articles were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients or patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%).

Conclusions

Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, may occur. The distinct disease-causing collagen genes are associated with a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.

Keywords:
Stickler syndrome; Arthro-ophthalmopathy; Collagen; COL2A1; Hearing loss; Cleft palate