title: Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
abstract: Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. In this study, we describe the clinical presentations of seven patients with Marshall syndrome from three unrelated Saudi families, inherited as autosomal dominant (two families) and autosomal recessive (one family). Cardinal clinical features of Marshall syndrome are manifested in all patients. One patient had ectodermal abnormalities. Mutations (c.2702G > A in exon 34,IVS50 + 1G > A, and IVS50 + lG > C) were identified in COL11A1 in affected members. Interestingly, the first report of autosomal recessive Marshall syndrome was from Saudi Arabia caused by the same mutation (c.2702G > A, p.Gly901Glu) as in one of our families. This study depicts detailed phenotypic and genetic description of dominant and recessive forms of Marshall syndrome due to COL11A1 mutations.
authors: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors: O
authors: O
authors: Khalifa
authors: F
authors: F
authors: Imtiaz
authors: K
authors: K
authors: Ramzan
authors: R
authors: R
authors: Allam
authors: A Al-
authors: AA
authors: Hemidan
authors: E
authors: E
authors: Faqeih
authors: G
authors: G
authors: Abuharb
authors: A
authors: A
authors: Balobaid
authors: N
authors: N
authors: Sakati
authors: M Al-
authors: MA
authors: Owain
mesh_terms: D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics*; D002648:Child; D024161:Collagen Type XI / Q000172:deficiency* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: D024161:Collagen Type XI
keywords: COL11A1; Marshall syndrome; Stickler syndrome; camptodactyly; ectodermal abnormalities; intracranial calcification