Abstrato

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

Amal Y Kentab

The Neuronal Ceroid-Lipofuscinoses (NCL) is a group of rare neurodegenerative disorders characterized by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. Clinical manifestations include seizures, progressive mental and motor deterioration, myoclonus, visual failure, dementia and premature death. Classically, NCL-affected individuals have been classified into six categories, based on the clinical onset of symptoms. Fourteen genetic forms of NCL (CLN1 to CLN14) have been described to date. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations. The author reports the clinical and neuroradiological features and molecular mutational analysis of 3 Palestinian siblings (two females, one male), products of a consanguineous marriage and in vitro fertilization, who were affected by the variant late-infantile NCL due to a homozygous mutation of CLN7 (MFSD8) gene. The author highlights the importance of an early recognition of this phenotype and an early confirmation of molecular diagnosis, which will allow for early and proper genetic counseling, including pre-implantation genetic diagnosis (PGD) and future family planning.