The Stickler Syndrome Is Closely Linked to COL2A1, the Structural Gene for Type II Collagen

Francomano, Clair A.; Liberfarb, Ruth M.; Hirose, Takeshi; Maumenee, I. H.; Streeten, Elizabeth A.; Meyers, Deborah A.; Pyeritz, Reed E.

doi:10.1159/000157103

Cited by 22 publications

(9 citation statements)

References 10 publications

(10 reference statements)

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“…SEDc [Anderson et al, 1990al SEDc, Namaqualand type [Sher et al, 19911 Osteoarthritis [SEDc] [Palotie et al, 1989;Knowlton et al, 19901 Stickler syndrome (some families) [Francomano et al, 1988a;Knowlton et al, 19891 Achondroplasia [Wordsworth et al, 1988;F'rancomano and Pyeritz, 1988bl Diaphyseal aclasis [Wordsworth et al, 19881 Hypochondroplasia [Wordsworth et al, 19881 Marfan syndrome Boileau et al, 19901 Multiple epiphyseal dysplasia [Wordsworth et al, 19881 Pseudoachondroplasia [Wordsworth et al, 19881 SED tarda [Wordsworth et al, 19881 SED type Kimberley [Anderson et al, 1990bl Stickler syndrome (some families) [Knowlton et al, 19891 Trichorhinophalangeal syndrome [Wordsworth et al, 19881 Disorders linked to COL2A1:…”

Section: Linkage Datamentioning

confidence: 99%

Molecular nosology of heritable disorders of connective tissue

Beighton¹,

Paepe²,

Hall³

et al. 1992

Am. J. Med. Genet.

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Section: Linkage Datamentioning

confidence: 99%

Molecular nosology of heritable disorders of connective tissue

Beighton¹,

Paepe²,

Hall³

et al. 1992

Am. J. Med. Genet.

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“…Francomano and her colleagues first reported concordance between COL2A1 and the Stickler syndrome in a large pedigree with a Lod score of 3.28 at 0= 0.00 (Francomano et al 1987). This was followed up by reports of other families, some of which supported and some of which disputed the original linkage (Francomano et al 1988;Weaver et al 1989;Knowlton et al 1989). The uncertainty prompted us to look again at our three generation Stickler family.…”

Section: Introductionmentioning

confidence: 95%

Amplification of the COL2A1 3? variable region used for segregation analysis in a family with the Stickler syndrome

Priestley

Kumar²,

Sykes

1990

Hum Genet

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Amplification of a variable region 3' to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in favour of linkage was 2.86 at zero recombination.

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“…Stickler syndrome, arthro-ophthalmopathy, is a clinically variable and genetically heterogenous disorder [Stickler et al, 1965;Francomano et al, 1987;Robin et al, 2000]. Its incidence among neonates is estimated to be approximately 1 in 7,500 to 1 in 9,000.…”

Section: Introductionmentioning

confidence: 99%

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

Baker¹,

Booth²,

Fillman³

et al. 2011

American J of Med Genetics Pt A

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Stickler syndrome is characterized by ocular, auditory, skeletal, and orofacial abnormalities. We describe a family with autosomal recessive Stickler syndrome. The main clinical findings consisted of high myopia, vitreoretinal degeneration, retinal detachment, hearing loss, and short stature. Affected family members were found to have a homozygous loss-of-function mutation in COL9A2, c.843_c.846 + 4del8. A family with autosomal recessive Stickler syndrome was previously described and found to have a homozygous loss-of-function mutation in COL9A1. COL9A1, COL9A2, and COL9A3 code for collagen IX. All three collagen IX α chains, α1, α2, and α3, are needed for formation of functional collagen IX molecule. In dogs, two causative loci have been identified in autosomal recessive oculoskeletal dysplasia. This dysplasia resembles Stickler syndrome. Recently, homozygous loss-of-function mutations in COL9A2 and COL9A3 were found to co-segregate with the loci. Together the data from the present study and the previous studies suggest that loss-of-function mutations in any of the collagen IX genes can cause autosomal recessive Stickler syndrome.

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The Stickler Syndrome Is Closely Linked to COL2A1, the Structural Gene for Type II Collagen

Cited by 22 publications

References 10 publications

Molecular nosology of heritable disorders of connective tissue

Molecular nosology of heritable disorders of connective tissue

Amplification of the COL2A1 3? variable region used for segregation analysis in a family with the Stickler syndrome

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

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