Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

doi:10.1086/302585

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Article

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

American journal of human genetics - 1 Oct 1999

Annunen S, Körkkö J, Czarny M, Warman M L, Brunner H G, Kääriäinen H, Mulliken J B, Tranebjaerg L, Brooks D G, Cox G F, Cruysberg J R, Curtis M A, Davenport S L, Friedrich C A, Kaitila I, Krawczynski M R, Latos-Bielenska A, Mukai S, Olsen B R, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop D J, Ala-Kokko L

Abstract excerpt

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation...

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PMID: 10486316
DOI: 10.1086/302585
PMCID: PMC1288268

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.PMID 10486316Read ↗

Marshall syndrome associated with a splicing defect at the COL11A1 locus.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.Semantic proximity Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.Semantic proximity Read ↗

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

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