Marshall syndrome is an autosomal dominant inherited connective tissue dysplasia with an estimated incidence of 1:10,000. Similar to Stickler syndrome, the disease is characterized by midface hypoplasia, severe myopia and sensory hearing loss. However, patients with Marshall syndrome are often short statured, hard of hearing and show more pronounced signs of dysmorphia.
The molecular cause of the disease is a disorder of collagen type XI, which is made up of heterotrimers of three different chains a1(XI), a2(XI), a3(XI). The chains a1(XI), a2(XI) are the gene products of COL11A1 and COL11A2; a3(XI) is a post-translationally modified product of the COL2A1 gene. Marshall syndrome is due to variants in the COL11A1 gene; splice variants are often responsible for a defective protein. As the COL11A1 gene, which also codes for components of collagen type XI, is also affected in exceptional cases in Stickler syndrome, the overlapping spectrum of clinical symptoms of both syndromes can be explained by the molecular pathology. Variants in the COL11A2 gene, on the other hand, are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia with malformed extremities in the absence of ocular symptoms.
References
Guo et al. 2017, Hum Genome Variation 4:17040 / Khalifa et al. 2014, Am J Med Genet 164A:2601 / Acke et al 2014, Mol Genet Metab 113:230 / Majava et al. 2007, Am J Med Genet 143A:258 / Melkoniemi et al 2000, Am J Hum Genet 66:368 / Annunen et al 1999, Am J Hum Genet, 65:974
SCIENTIFIC BACKGROUND
COL11A1
GENES
ASSOCIATED TESTS
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