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Background  The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in  GLRA1 . This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane domain (TMD) with 4 α-helices (TM1–TM4).    Case presentation  We investigated the genetic cause of hyperekplexia in a Chinese family with one affected member. Whole-exome sequencing of the 5 candidate genes was performed on the proband patient, and direct sequencing was performed to validate and confirm the detected mutation in other family members. We also review and analyse all reported  GLRA1  mutations. The proband had a compound heterozygous  GLRA1  mutation that comprised 2 novel  GLRA1  missense mutations, C.569C > T (p.T190 M) from the mother and C.1270G > A (p.D424N) from the father. SIFT, Polyphen-2 and MutationTaster analysis identified the mutations as disease-causing, but the parents had no signs of hyperekplexia. The p.T190 M mutation is located in the ECD, while p.D424N is located in TM4.    Conclusions  Our findings contribute to a growing list  GLRA1  mutations associated with hyperekplexia and provide new insights into correlations between phenotype and  GLRA1  mutations. Some recessive mutations can induce hyperekplexia in combination with other recessive  GLRA1  mutations. Mutations in the ECD, TM1, TM1-TM2 loop, TM3, TM3-TM4 loop and TM4 are more often recessive and part of a compound mutation, while those in TM2 and the TM2-TM3 loop are more likely to be dominant hereditary mutations.    Electronic supplementary material  The online version of this article (10.1186/s12881-017-0476-6) contains supplementary material, which is available to authorized users.

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