Computing and Library Services - delivering an inspiring information environment

A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance

Carossa, Valeria, Ghelli, Anna, Tropeano, Concetta Valentina, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Martinuzzi, Andrea, De Nardo, Vera, Rugolo, Michela, Ferretti, Luca, Gandini, Francesca, Pala, Maria, Achilli, Alessandro, Olivieri, Anna, Torroni, Antonio and Carelli, Valerio (2014) A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance. Human Mutation, 35 (8). pp. 954-958. ISSN 10597794

Metadata only available from this repository.


A novel heteroplasmic mitochondrial DNA (mtDNA) microdeletion affecting the cytochrome b gene (MT-CYB) was identified in an Italian female patient with a multisystem disease characterized by sensorineural deafness, cataracts, retinal pigmentary dystrophy, dysphagia, postural and gait instability, and myopathy with prominent exercise intolerance. The deletion is 18-base pair long and encompasses nucleotide positions 15,649–15,666, causing the loss of six amino acids (Ile-Leu-Ala-Met-Ile-Pro) in the protein, but leaving the remaining of the MT-CYB sequence in frame. The defective complex III function was cotransferred with mutant mtDNA in cybrids, thus unequivocally establishing its pathogenic role. Maternal relatives failed to show detectable levels of the deletion in blood and urinary epithelium, suggesting a de novo mutational event. This is the second report of an in-frame intragenic deletion in MT-CYB, which most likely occurred in early stages of embryonic development, associated with a severe multisystem disorder with prominent exercise intolerance.

Item Type: Article
Subjects: Q Science > Q Science (General)
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Related URLs:
Depositing User: Sara Taylor
Date Deposited: 18 Aug 2015 14:26
Last Modified: 04 Sep 2015 22:24


Downloads per month over past year

Repository Staff Only: item control page

View Item View Item

University of Huddersfield, Queensgate, Huddersfield, HD1 3DH Copyright and Disclaimer All rights reserved ©