ORPHA: 250984, 828;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1p34.2 | ?Stickler syndrome, type V | 614284 | Autosomal recessive | 3 | COL9A2 | 120260 |
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.
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.
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.
Baker, S., Booth, C., Fillman, C., Shapiro, M., Blair, M. P., Hyland, J. C., Ala-Kokko, L. A loss of function mutation in the COL9A2 gene cause autosomal recessive Stickler syndrome. Am. J. Med. Genet. 155A: 1668-1672, 2011. [PubMed: 21671392] [Full Text: https://doi.org/10.1002/ajmg.a.34071]