A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Anastasiya Aleksandrovna KozinaElena Grigorievna OkunevaNatalia Vladimirovna BaryshnikovaAnna Yurievna KrasnenkoKirill Yurievich TsukanovOlesya Igorevna KlimchukOlga Borisovna KondakovaAnna Nikolaevna LarionovaTatyana Timofeevna BatyshevaEkaterina Ivanovna SurkovaPeter Alekseevich ShatalovValery Vladimirovich IlinskyPublished in: BMC medical genetics (2018)
Our results enlarge mutational spectrum of ceroid lipofuscinosis type 7 and demonstrate tremendous diagnosis value of exome sequencing for pediatric NCLs. Also we confirmed that NCL should be suspected in patients with Rett-like phenotype at onset and negative MECP2 mutation.