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Stickler syndrome: comprehensive clinical and molecular analysis

Frederic Acke, Paul Coucke UGent, Olivier Vanakker UGent, Kristien Hoornaert, Geert Mortier, Ingeborg Dhooge UGent, Anne De Paepe UGent, Els De Leenheer UGent and Fransiska Malfait UGent (2016) European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book.
abstract
Objectives: Stickler syndrome is a clinically and molecularly heterogeneous collagenopathy, with ocular, auditory, orofacial and skeletal manifestations. Symptoms relevant for otorhinolaryngologists are sensorineural hearing loss, a typical facial appearance and cleft palate. The syndrome is predominantly caused by a mutation in COL2A1, COL11A1 or COL11A2. Although it is well-established that mutations in these genes result in distinct phenotypes, no consensus about clinical diagnostic criteria exists. We aim to better define the syndrome and its different types by describing comprehensive clinical and molecular results. Methods: We performed a retrospective review of the medical records of 227 mutation-positive probands with Stickler syndrome. All relevant data about the four involved body systems (ocular, auditory, orofacial and skeletal) were collected. Results: Eighty-three percent of the probands have a mutation in COL2A1, 13% in COL11A1 and 4% in COL11A2. More than half of the probands were minors at time of molecular confirmation. The most prevalent signs are midfacial hypoplasia (85%) and high myopia (82%). Ocular manifestations are highly discriminating (usually absent in COL11A2, membranous vitreous in COL2A1 and beaded vitreous in COL11A1), as well as sensorineural hearing loss (42% in COL2A1 resulting in mild high-frequency hearing loss; 74% in COL11A1 and 83% in COL11A2, both resulting in moderate hearing loss with a sloping audiogram). A palatal anomaly, ranging from a high-arched palate to overt clefting, was present in about 70% and its prevalence did not differ among the different genes. Certain specific mutation types seem to have a somewhat distinct phenotype. Conclusions: The definite diagnosis of Stickler syndrome is based upon clinical suspicion and molecular confirmation. Ocular and auditory characteristics are helpful in predicting the involved gene and sometimes the mutation type or location. This retrospective review of a large group of molecularly-confirmed patients might help in the diagnosis of Stickler syndrome and might guide prospective studies about the optimal diagnostic criteria.
Please use this url to cite or link to this publication:
author
organization
year
type
conference (meetingAbstract)
publication status
published
subject
in
European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book
conference name
13th International congress of the European Society of Pediatric Otorhinolaryngology (ESPO 2016)
conference location
Lisbon, Portugal
conference start
2016-05-18
conference end
2016-05-21
language
English
UGent publication?
yes
classification
C3
id
8033557
handle
http://hdl.handle.net/1854/LU-8033557
date created
2016-07-10 15:12:38
date last changed
2017-02-20 12:27:08
@inproceedings{8033557,
  abstract     = {Objectives: Stickler syndrome is a clinically and molecularly heterogeneous collagenopathy, with ocular, auditory, orofacial and skeletal manifestations. Symptoms relevant for otorhinolaryngologists are sensorineural hearing loss, a typical facial appearance and cleft palate. The syndrome is predominantly caused by a mutation in COL2A1, COL11A1 or COL11A2. Although it is well-established that mutations in these genes result in distinct phenotypes, no consensus about clinical diagnostic criteria exists.  We aim to better define the syndrome and its different types by describing comprehensive clinical and molecular results.
Methods: We performed a retrospective review of the medical records of 227 mutation-positive probands with Stickler syndrome. All relevant data about the four involved body systems (ocular, auditory, orofacial and skeletal) were collected. 
Results: Eighty-three percent of the probands have a mutation in COL2A1, 13\% in COL11A1 and 4\% in COL11A2. More than half of the probands were minors at time of molecular confirmation. The most prevalent signs are midfacial hypoplasia (85\%) and high myopia (82\%). Ocular manifestations are highly discriminating (usually absent in COL11A2, membranous vitreous in COL2A1 and beaded vitreous in COL11A1), as well as sensorineural hearing loss (42\% in COL2A1 resulting in mild high-frequency hearing loss; 74\% in COL11A1 and 83\% in COL11A2, both resulting in moderate hearing loss with a sloping audiogram). A palatal anomaly, ranging from a high-arched palate to overt clefting, was present in about 70\% and its prevalence did not differ among the different genes. Certain specific mutation types seem to have a somewhat distinct phenotype. 
Conclusions: The definite diagnosis of Stickler syndrome is based upon clinical suspicion and molecular confirmation. Ocular and auditory characteristics are helpful in predicting the involved gene and sometimes the mutation type or location. This retrospective review of a large group of molecularly-confirmed patients might help in the diagnosis of Stickler syndrome and might guide prospective studies about the optimal diagnostic criteria.},
  author       = {Acke, Frederic and Coucke, Paul and Vanakker, Olivier and Hoornaert, Kristien and Mortier, Geert and Dhooge, Ingeborg and De Paepe, Anne and De Leenheer, Els and Malfait, Fransiska},
  booktitle    = {European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book},
  language     = {eng},
  location     = {Lisbon, Portugal},
  title        = {Stickler syndrome: comprehensive clinical and molecular analysis},
  year         = {2016},
}

Chicago
Acke, Frederic, Paul Coucke, Olivier Vanakker, Kristien Hoornaert, Geert Mortier, Ingeborg Dhooge, Anne De Paepe, Els De Leenheer, and Fransiska Malfait. 2016. “Stickler Syndrome: Comprehensive Clinical and Molecular Analysis.” In European Society of Pediatric Otorhinolaryngology, 13th International Congress, Abstract Book.
APA
Acke, F., Coucke, P., Vanakker, O., Hoornaert, K., Mortier, G., Dhooge, I., De Paepe, A., et al. (2016). Stickler syndrome: comprehensive clinical and molecular analysis. European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book. Presented at the 13th International congress of the European Society of Pediatric Otorhinolaryngology (ESPO 2016).
Vancouver
1.
Acke F, Coucke P, Vanakker O, Hoornaert K, Mortier G, Dhooge I, et al. Stickler syndrome: comprehensive clinical and molecular analysis. European Society of Pediatric Otorhinolaryngology, 13th International congress, Abstract book. 2016.
MLA
Acke, Frederic, Paul Coucke, Olivier Vanakker, et al. “Stickler Syndrome: Comprehensive Clinical and Molecular Analysis.” European Society of Pediatric Otorhinolaryngology, 13th International Congress, Abstract Book. 2016. Print.