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
LATEST ARTICLES
Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...
Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...
Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...
Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...
Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...
The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...
Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...
Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...
February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for th...
Introduction Cardiovascular disease (CVD) is a major health issue as it remains a leading cause of death worldwide [1]. CVD is responsible for mor...
