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Communications
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
  1. Ola Khalifa1,
  2. Faiqa Imtiaz2,
  3. Rabab Allam2,
  4. Zuhair Al-Hassnan1,3,
  5. Amal Al-Hemidan4,
  6. Khalid Al-Mane5,
  7. Gheid Abuharb6,
  8. Ameera Balobaid1,
  9. Nadia Sakati7,
  10. James Hyland8,
  11. Mohammed Al-Owain1,3
  1. 1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  2. 2Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  3. 3College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  4. 4Section of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  5. 5Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  6. 6Department of Otolaryngology/Head and Neck Surgery and Communication Sciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  7. 7Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
  8. 8Connective Tissue Gene Tests, Allentown, Pennsylvania, USA
  1. Correspondence to Dr Mohammed Al-Owain, Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC 75, PO Box 3354, Riyadh 11211, Saudi Arabia; alowain{at}kfshrc.edu.sa

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Recently, Tompson et al1 described the use of autozygosity mapping and expression studies to identify compound heterozygous mutations (c.2386G>C/c.3943G>T; c.1786dupG/c.3124G>A) in the COL11A1 gene in two unrelated patients as a cause of fibrochondrogenesis (MIM 228520). They concluded that fibrochondrogenesis, a short-limbed skeletal dysplasia, represents the most severe end of a spectrum of disorders caused by a COL11A1 defect to date.1 Subsequently, dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2, were described.2 Mutations in these two genes along with COL2A1 were previously reported to cause autosomal dominant forms of Stickler (MIM 604841) and Marshall syndromes (MIM 154780).3–5 COL9A1 and COL9A2 defects, on the other hand, were identified as causing forms of Stickler syndrome with an autosomal recessive inheritance pattern.6 7 Here we report the first evidence that adds COL11A1 defect as a cause of Marshall syndrome with a recessive mode of inheritance.

The proband is a Saudi boy born at term after an uneventful pregnancy to consanguineous parents. He was referred to us at the age of 16 months because of mild motor, speech delay, and dysmorphic facial features (figure 1 A,B). He had ocular hypertelorism with midface hypoplasia and a broad, flat nasal bridge, anteverted nares, and long philtrum. He also had sparse lusterless scalp hair. He had normal palate, teeth, nails, and skin with normal hidrosis. Ophthalmological examination showed progressive high myopia (−12 Diopters), iridodenesis and subluxation of lenses nasally with loss of zonules temporally resulting …

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