Abstract | OBJECTIVE: PATIENT & METHODS: RESULTS: A novel nucleotide substitution c.553A>G in exon 7 of the TAZ gene was identified in the proband, predicting an amino acid substitution p.Met185Val. However, this mutation created a new splice donor signal within exon 7 causing mis-splicing of the message, producing two messages that only differ in the presence/absence of exon 5; these retain intron 6 and have only 11 bases of exon 7. Cardiolipin analysis confirmed the loss of tafazzin activity. The proband's mother, maternal aunt, and grandmother carry the same mutation. CONCLUSIONS:
|
Authors | Yuxin Fan, Jon Steller, Iris L Gonzalez, Wim Kulik, Michelle Fox, Richard Chang, Brandy A Westerfield, Anjan S Batra, Raymond Yu Jeang Wang, Natalie M Gallant, Liana S Pena, Hu Wang, Taosheng Huang, Sunita Bhuta, Daniel J Penny, Edward R McCabe, Virginia E Kimonis |
Journal | JIMD reports
(JIMD Rep)
Vol. 11
Pg. 99-106
( 2013)
ISSN: 2192-8304 [Print] United States |
PMID | 23606313
(Publication Type: Journal Article)
|