KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Kyle A MetzXinchen TengIsabelle CoppensHeather M LambBart E WagnerJill Anne RosenfeldXianghui ChenYu ZhangHee Jong KimMichael E MeadowTim Sen WangEdda D HaberlandtGlenn W AndersonEsther Leshinsky-SilverWeimin BiThomas C MarkelloMarsha PrattNawal MakhseedAdolfo GarnicaNoelle R DanylchukThomas A BurrowParul JayakarDianalee McKnightSatish AgadiHatha GbedawoChristine StanleyMichael AlberIsabelle PrehlKatrina PearisoMin Tsui OngSantosh R MordekarMichael J ParkerDaniel CrooksPankaj B AgrawalGerard T BerryTobias LoddenkemperYaping YangGustavo H B MaegawaAbdel AouacheriaJanet G MarkleJames A WohlschlegelAdam L HartmanJ Marie HardwickPublished in: Annals of neurology (2018)
Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders. KCTD7 deficiency appears to cause an underlying autophagy-lysosome defect conserved in yeast, thereby assigning a biological role for KCTD7. Ann Neurol 2018;84:774-788.