Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study

Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study

<p>Distinct clinical syndromes have been associated with pathogenic <em>MT‐ATP6</em> variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh sy...

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Մատենագիտական մանրամասներ
Հիմնական հեղինակներ: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
Ձևաչափ: Journal article
Լեզու:English
Հրապարակվել է: Wiley 2019
Նկարագրություն
Ամփոփում:<p>Distinct clinical syndromes have been associated with pathogenic <em>MT‐ATP6</em> variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that <em>MT‐ATP6</em>–related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels.</p>

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