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Syndromes and Diseases Caused by Mutations Due to Expansion of DNA Trinucleotide


Authors: E. Seemanová
Published in: Čas. Lék. čes. 2002; : 503-507
Category:

Overview

A novel type of mutation – due to expansion of DNA trinucleotide repeats – has been discovered about 10 yearsago. Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome,FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonicdystrophia, Huntington disease, Friedreich ataxia, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. andTaylor’s oculopharyngeal muscle dystrophy. The mutations of instable trinucleotids represent some exceptions fromthe regular monogenic transmission such as premutation, genomic imprinting, generation anticipation (acceleration,accentuation), somatic mosaicism. A good understanding of their special properties is necessary for efficientinterdisciplinar collaboration of medical teams taking care for these patients and their families.

Key words:
triplet repeats, premutation, fragile X syndrome A and E, Curschmann-Steinert syndrome, Huntingtonchorea, Friedreich ataxia, spinocerebellar ataxias, Taylor syndrome oculopharyngeal muscle dystrophy.

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Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management
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