Coats plus
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Coats plus. This is caused by mutations in the CTC1 gene. The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CTC1 gene
- The transmission is autosomal recessive
Major features
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Orthopaedic features
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Neurological features
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Radiological features
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Synonym
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References
- Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol 2016; 13:696-706.
- Crow YJ, McMenamin J, Haenggeli CA, et al. Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 2004; 35:10-9.
- Savage SA. Beginning at the ends: telomeres and human disease. F1000Res 2018; pii: F1000 Faculty Rev-524.
- Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2013; 6:327-337.
