Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Human mutation - 1 May 2017
Kernohan Kristin D, Dyment David A, Pupavac Mihaela, Cramer Zvi, McBride Arran, Bernard Genevieve, Straub Isabella, Tetreault Martine, Hartley Taila, Huang Lijia, Sell Erick, Majewski Jacek, Rosenblatt David S, Shoubridge Eric, Mhanni Aziz, Myers Tara, Proud Virginia, Vergano Samanta, Spangler Brooke, Farrow Emily, Kussman Jennifer, Safina Nicole, Saunders Carol, Boycott Kym M, Thiffault Isabelle
Abstract excerpt
Deleterious variants in the same gene present in two or more families with overlapping clinical features provide convincing evidence of a disease-gene association; this can be a challenge in the study of ultrarare diseases. To facilitate the identification of additional families, several groups have created "matching" platforms. We describe four individuals from three unrelated families "matched" by GeneMatcher...
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