James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A Huryn, Yuri V Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, Carl J Haugen, Lev Prasov, Ruifang Shi, Hélène Dollfus, Petros Aristodemou, Yannik Laich, Andrea H Németh, John Taylor, Susan Downes, Maciej R Krawczynski, Isabelle Meunier, Melissa Strassberg, Jessica Tenney, Josephine Gao, Matthew A Shear, Anthony T Moore, Jacque L Duncan, Beatriz Menendez, Sarah Hull, Andrea L Vincent, Carly E Siskind, Elias I Traboulsi, Craig Blackstone, Robert A Sisk, Virginia Miraldi Utz, Andrew R Webster, Michel Michaelides, Gavin Arno, Matthis Synofzik, Robert B Hufnagel
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a systematic evidence-based review of a novel cohort of 23 new patients along with 95 reported individuals with PNPLA6 variants that implicate missense variants as a driver of disease pathogenesis...
May 13, 2024: Brain