Congenital myasthenic syndromes

Table 2 Genes mutated in CMS

Gene	Chromosome	MOI	LD	OOCM	PCMS (%)^a
AGRN	1p36.33	AR	post	con, inf	< 1
ALG2	9q22.33	AR	glyc	con, inf	< 1
ALG14	1p21.3	AR	glyc	con, child	< 1
CHAT	10q11.23	AR	pre	con, inf	4–5
CHRNA1	2q31.1	AD/AR	post	con, adult	< 1
CHRNB1	17p13.1	AF/AR	post	inf	< 1
CHRND	2q37.1	AD/AR	post	inf	< 1
CHRNE	17p13.2	AD/AR	post	con, inf, child, adult	50
CHRNG	2q37.1	AR	post	con	uk
COL13A1	10q22.1	AR	post	con	< 1
COLQ	3p24.2	AR	syn	con, inf, child	10–15
DOK7	4p16.3	AR	post	con, inf, child, adol, adult	10–15
DPAGT1	11q23.3	AR	glyc	inf, adol	< 1
GFPT1	2p13.3	AR	glyc	con, inf, child, adult	2
GMPPB	3p21.31	AR	glyc	con	< 1
LAMA5	20q13.33	uk	pre	con	< 1
LAMB2	3p21.31	AR	syn	con	< 1
LRP4	11p11.2	AR	post	con	< 1
MUNC13–1	19	AR	pre	inf	< 1
MUSK	9q31.3	AR	post	con	< 1
MYO9A	15q23	AR	post	con	< 1
PLEC	8q24.3	AR	post	con	< 1
PREP1	2p21	AR	post	con	< 1
RAPSN	11p13-q1	AR	post	con, inf, child, adol, adult	10–20
SCN4A	17q23.3	AR	post	inf	< 1
SLC18A3	10q11.23	AR	pre	con, inf	< 1
SLC25A1	22q11.21	AR	post	inf	< 1
SLC5A7	2q12.3	AD	pre	con, inf	< 1
SNAP25	20p12.2	AD	pre	con	< 1
SYB1	12p	uk	pre	inf	< 1
SYT2	1q32.1	AD	pre	child	< 1
VAMP1	12p13.21	AR	pre	con	< 1

MOI mode of inheritance, LD localisation of defect, pre: presynaptic, syn: synaptic, post: post-synaptic, glyc: glycosylation defect, OOCM onset of clinical manifestations, con congenital, inf infantile, child childhood, adol adolescence, adult: adulthood PCMS prevalence of various subtypes, ^a: according to [6], uk unknown

ISSN: 1750-1172