Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Table 1 Different types of neuronal ceroid lipofuscinosis

Types of NCLs	Pattern	Onset	Gene	Chromosome location
NCL1	AR	Infantile Adulthood (mild form)	PTT1/CLN1	1p32
NCL2	AR	Late infantile	TPP1/CLN2	11p15.5
NCL3		Juvenile	CLN3	16p12.1
NCL4	AR AD	Adulthood	CLN6 DNAJC5	15q21-q23 20q13.33
NCL5	AR	Late infantile Adulthood (mild form)	CLN5	13q21.1-q32
NCL6	AR	Late infantile	CLN6	15q21.q23
NCL7	AR	Late infantile	CLN7/MFSD8	4q28.1-q28.2
NCL8	AR	Late infantile	CLN8	8p23.3
NCL9	AR	Juvenile	Unknown	Unknown
NCL10	AR	Newborn Adulthood (mild form)	CLN10/CTSD	1p15.5

AD autosomal dominant, AR autosomal recessive, NCL neuronal ceroid lipofuscinosis

ISSN: 1752-1947