Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

Annals of Neurology

Volumn 46, Issue 4, 1999, Pages 634-638

  Vergouwe, M N ^d   Tijssen, M A J ^a   Peters, A C B ^b   Wielaard, R ^c   Frants, R R ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Zuwe Hofpoort Ziekenhuis   (Netherlands)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE RECEPTOR; HISTIDINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 5Q; FEMALE; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STARTLE EPILEPSY;

CHROMOSOME MAPPING; FEMALE; GENETIC MARKERS; HUMANS; INFANT; MUSCLE RIGIDITY; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION; TANDEM REPEAT SEQUENCES;

EID: 0032829753     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199910)46:4<634::AID-ANA12>3.0.CO;2-9     Document Type: Article

References (23)

1. Suhren O, Bruyn GW, Tuynman A. Hyperekplexia, a hereditary startle syndrome. J Neurol Sci 1966;3:577-605
2. Tijssen MA, Shiang R, van Deutekom J, et al. Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 1995;52:578-582
3. Ryan SG, Dixon MJ, Nigro MA, et al. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet 1992;51:1334-1343
4. Ryan SG, Sherman SL, Terry JC, et al. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992;31:663-668
5. Rajendra S, Lynch JW, Pierce KD, et al. Mutation of an arginine residue in the human glycine receptor transforms betaalanine and taurine from agonists into competitive antagonists. Neuron 1995;14:169-175
6. Grenningloh G, Schmieden V, Schofield PR, et al. Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J 1990;9:771-776
7. Saul B, Kuner T, Sobetzko D, et al. Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J Neurosci 1999;19:869-877
8. Milani N, Dalpra L, del Prete A, et al. A novel mutation (Gln266→His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet 1996;58:420-422
9. Shiang R, Ryan SG, Zhu Y, et al. Mutations in the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Gen 1993; 5:351-357
10. Rees MI, Andrew M, Jawad S, Owen MJ. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor. Hum Mol Genet 1994;3:2175-2179
11. Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with startle disease and a G1192A mutation at the alpha-1 subunit of the inhibitory glycine receptor. Hum Mol Genet 1994;3:1201
12. Shiang R, Ryan SG, Zhen Zhu R, et al. Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol 1995;38: 85-91
13. Elmslie FV, Hutchings SM, Spencer V, et al. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet 1996;33:435-436
14. Bernasconi A, Regli F, Schorderet DF, Pescia G. Familial hyperekplexia: startle disease. [Clinical, electrophysiological and genetic study of a family]. Rev Neurol (Paris) 1996; 152:447-450
15. Seri M, Bolino A, Galietta LJV, et al. Startle disease in an Italian family by mutation (K276E): the alpha-subunit of the inhibiting glycine receptor. Hum Mutat 1997;9:185-187
16. Baxter P, Connolly S, Curtis A, et al. Co-dominant inheritance of hyperekplexia and spastic paraparesis. Dev Med Child Neurol 1996;38:739-743
17. Brune W, Weber RG, Saul B, et al. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. Am J Genet 1996;58:989-997
18. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215
19. Vergouwe MN, Tijssen MAJ, Shiang R, et al. Hyperekplexia-like syndromes without mutations in the GLRA1 gene. Clin Neurol Neurosurg 1997;99:172-178
20. Smit M, de Knijff P, Rosseneu M, et al. Apolipoprotein E polymorphism in the Netherlands and its effect on plasma lipid and apolipoprotein levels. Hum Genet 1988;80:287-292
21. Shahar E, Brand N, Uziel Y, Barak Y. Nose tapping test inducing a generalized flexor spasm: a hallmark of hyperekplexia. Acta Paediatr Scand 1991;80:1073-1077
22. Langosch D, Herbold A, Schmieden V, et al. Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors. FEBS Lett 1993;336:540-544
23. Lynch JW, Rajendra S, Pierce KD, et al. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J 1997;16:110-120