A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Table 2 Distribution of hyperekplexia mutations in GLRA1 according to the hGlyR position

hGlyR position	Mutations n	Recessive mutations n (%)	Recessive mutations that are compound mutations n (%)	Reported dominant mutations n (%)	Reported de novo mutations n (%)
NA	2	2 (100)	1 (50)	0	0
ECD	21	19 (90.4)	10 (52.6)	1 (4.8)	1 (4.8)
TM1	7	5 (71.4)	2 (40)	2 (28.6)	0
TM1-TM2 loop	1	0	–	1 (100)	0
TM2	13	4 (30.8)	1 (25)	9 (69.2)	0
TM2-TM3 loop	6	1 (16.7)	0	4 (66.7)	1 (16.7)
TM3	2	2 (100)	2 (100)	0	0
TM3-TM4 loop	6	6 (100)	4 (66.7)	0	0
TM4	4	3 (75)	2 (66.7)	1 (25)	0
Total	62	42 (67.7)	22 (52.4)	18 (29)	2 (3.2)

NA not applicable, ECD extracellular binding domain, TM transmembrane domain, n number of mutations, % percentage of mutations

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