Table 1b.

Molecular Genetics of mtDNA-Associated Leigh Syndrome and NARP: Less Common Genetic Causes

Gene 1, 2CommentsReferences
MT-CO3 3 probands: 2 w/variant m.9478T>C, 1 w/variant m.9357_9538insCTiranti et al [2000], Mkaouar-Rebai et al [2011]
MT-ND1 9 probands (only 1 w/LLS): 4 probands w/var m.3697G>A, 2 w/var m.3980G>A, 1 w/var m.3928G>C LS, 1 w/var m.3308T>C, 1 w/var m.3688G>ACampos et al [1997], Moslemi et al [2008], Valente et al [2009], Caporali et al [2013], Wray et al [2013], Negishi et al [2014], Spangenberg et al [2016]
MT-ND2 2 probands w/var m.4681T>CHinttala et al [2006], Ugalde et al [2007]
MT-ND4 8 probands: 4 w/var m.1777C>A, 1 w/var m.11984T>C, 1 w/var m.11240C>T, 1 w/var m.11246G>A, 1 path var not specifiedKomaki et al [2003], Bugiani et al [2004], Vanniarajan et al [2006], Hadzsiev et al [2010], Uehara et al [2014], Han et al [2015], Xu et al [2017]
MT-TI 4 probands: 2 w/var m.4296G>A, 2 sibs w/var m.4290T>CLimongelli et al [2004], Cox et al [2012], Martikainen et al [2013]
MT-TK 12 probands w/Leigh syndrome: all w/var m.8344A>GBerkovic et al [1989], Zeviani et al [1991], Silvestri et al [1993], Rahman et al [1996], Buda et al [2013]
MT-TL1 2 probands w/var.m.3243A>G Vilarinho et al [1997]
MT-TL2 2 sibs w/var m.12311T>C Veerapandiyan et al [2016]
MT-TV 5 probands: 4 w/LS & homoplasmic pathogenic variants (1 w/var m.1624C>T, 3 w/var m.1644G>A), 1 proband w/NARP & 71% abnormal mtDNA (m.1606G>A)Chalmers et al [1997], McFarland et al [2002], Sacconi et al [2002], Fraidakis et al [2014]
MT-TW 6 probands w/LS: 3 w/an insertion at position 5537, 2 w/var m.5559A>G, 1 w/var m.5523T>GSantorelli et al [1997], Tulinius et al [2003], Mkaouar-Rebai et al [2009], Duff et al [2015]

Pathogenic variants of any one of the genes listed in this table are reported in only a few families (i.e., <1% of mtDNA-associated Leigh syndrome and NARP).

LLS = Leigh-like syndrome; LS = Leigh syndrome


Genes are listed alphabetically.


From: Mitochondrial DNA-Associated Leigh Syndrome and NARP

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