MFSD8 mutation causing variant late infantile neuronal ceroid lipofuscinosis (vLINCL) in three Palestinian siblings of Arab Descent.

MFSD8/CLN7 gene encodes for CLN7, a putative lysosomal transporter (major facilitator superfamily domain containing protein 12) protein on chromosome 4q28.1–q28.2, localized to the lysosomal membrane and belongs to the major facilitator superfamily (MFS) [12]. Although this protein is ubiquitously expressed, high transcript concentrations have been identified in specific brain locations, such as the cerebellar cortex and the hippocampus [13]. More than 30 pathogenic sequence variants have been described so far in MFSD8, most being homozygous missense mutations (http://www.ucl.ac.uk/ ncl/mutation) [2]. It has been proposed that this kind of MFSD8 mutation causing variant late infantile neuronal ceroid lipofuscinosis (vLINCL) in three Palestinian siblings of Arab Descent.