MOLECULAR STUDY STICKLER SYNDROME (COL2A1, COL11A1 (EXONS 14 TO 67)) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4132

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	62 days
Information:
Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases). Incidence at birth has been estimated at around 1/7,500. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Bone anomalies include mild platyspondyly and large, often abnormal, epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The syndrome generally appears to be transmitted in an autosomal dominant manner and is genetically heterogeneous. Stickler syndrome type 1 is caused by mutations in the COL2A1 gene (12q13.11-q13.2), Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21) and Stickler syndrome type 3 (without ocular signs; see this term) is caused by mutations in the COL11A2 gene (6p21.3). An autosomal recessive form of Stickler syndrome associated with mutations in the COL9A1 (6q12-q14) gene has also been reported in a Moroccan family. Diagnosis is made on the basis of the clinical picture and can be confirmed by molecular analysis. Prenatal diagnosis is feasible for families in which the disease-causing mutation has been identified. Management should be multidisciplinary and as clinical expression is very variable, treatment needs to be adapted to each case. Prognosis depends on the severity of the signs present.
Links:
OMIM Entry - # 108300 - STICKLER SYNDROME, TYPE I; STL1
OMIM Entry - # 184840 - STICKLER SYNDROME, TYPE III; STL3
Orphanet S ndrome de Stickler
Stickler Syndrome - GeneReviews™ - NCBI Bookshelf
OMIM Entry - + 120140 - COLLAGEN, TYPE II, ALPHA-1; COL2A1
OMIM Entry - - 120290 - COLLAGEN, TYPE XI, ALPHA-2; COL11A2

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