Forrest, Susan M., Knight, Melanie, Delatycki, Martin B., Paris, Damien, Williamson, Robert, King, John, Yeung, Leone, Nassif, Najah, and Nicholson, Garth A. (1998) The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics, 1 (4). pp. 253-257.

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Abstract

Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport. However, between 1% and 5% of mutations are single base changes in the sequence of the FRDA gene, causing missense, nonsense, or splicing mutations. We describe three new mutations, IVS4nt2 (T to G), R165C, and L182F, which occur in patients in association with GAA expansions. These cases, and a further five reported cases of point mutations causing FRDA, demonstrate that splicing, nonsense, or initiation codon mutations (which cause a complete absence of functional frataxin) are associated with a severe phenotype. Missense mutations, even in highly evolutionally conserved amino acids, may cause a mild or severe phenotype.

Item ID:	34533
Item Type:	Article (Research - C1)
ISSN:	1364-6753
Keywords:	point mutation, Friedreich ataxia, GAA expansion, phenotype
Funders:	APEX
Date Deposited:	27 Aug 2014 23:36
FoR Codes:	11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110904 Neurology and Neuromuscular Diseases @ 30% 11 MEDICAL AND HEALTH SCIENCES > 1103 Clinical Sciences > 110311 Medical Genetics (excl Cancer Genetics) @ 40% 11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110905 Peripheral Nervous System @ 30%
SEO Codes:	97 EXPANDING KNOWLEDGE > 970111 Expanding Knowledge in the Medical and Health Sciences @ 30% 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 40% 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920111 Nervous System and Disorders @ 30%
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