Stickler Syndrome, Type V

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

COL9A2, COL9A1, COL9A3, COL2A1, COL11A1, COL11A2, LOXL3, BMP4, TECTA, ZAP70, WRN, LRP2, SULT2A1, RPS6KA3, PLXNA2, CGA, MYP10

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Methotrexate ( LEDERTREXATE, NORDIMET, METHOTREXATE WYETH LEDERLE )

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A number sign (#) is used with this entry because of evidence that Stickler syndrome type V (STL5) is caused by homozygous mutation in the COL9A2 gene (120260) on chromosome 1p34. One such family has been reported.

For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300.

Clinical Features

Baker et al. (2011) studied a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome. Affected family members had high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. None of the family members was known to have cleft palate, and although there was short stature in childhood, adult height was thought to be appropriate for this family.

Molecular Genetics

In a large 5-generation consanguineous pedigree of Asian Indian origin segregating autosomal recessive Stickler syndrome, Baker et al. (2011) analyzed 3 candidate collagen IX-related genes and identified homozygosity for an 8-bp deletion in the COL9A2 gene (120260.0006) in an affected sister and brother. The deletion was present in heterozygosity in the unaffected brother and parents.