Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (Dysequilibrium syndrome)

Journal of Child Neurology

Volumn 24, Issue 10, 2009, Pages 1310-1315

  Boycott, Kym M ^a   Bonnemann, Carsten ^b   Herz, Joachim ^c   Neuert, Stephanie ^d   Beaulieu, Chandree ^d   Scott, James N ^e   Venkatasubramanian, Anuradha ^b   Parboosingh, Jillian S ^d  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF TEXAS AT DALLAS   (United States)

^d UNIVERSITY OF CALGARY   (Canada)

^e FOOTHILLS HOSPITAL   (Canada)

Author keywords

Cerebellar hypoplasia; Dysequilibrium syndrome; VLDLR

Indexed keywords

VERY LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE MUTATION; HEMISPHERE; HETEROZYGOSITY; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROANATOMY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PONS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; AMINO ACID SEQUENCE; BRAIN; DNA SEQUENCE; GENETICS; INFANT; MOLECULAR GENETICS; PATHOLOGY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; STOP CODON; SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; CEREBELLAR ATAXIA; CODON, NONSENSE; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, LDL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

EID: 74949091198     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809332696     Document Type: Article

References (29)

1. Alajouanine T, Aubrey M, Nehlil J. Sur une affection familiale caractérisée par un syndrome de déséquilibration avec importantes pertubations vestibulaires centrales. Rev Neurol. 1943;75:252-254.
2. Hagberg B, Sanner G, Steen M. The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. Acta Paediat Scand. 1972;61:1-63.
3. Sanner G. The dysequilibrium syndrome. A genetic study. Neuropadiatrie. 1973;4:403-413.
4. Schurig V, Oram AV, Bowen P. Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet. 1981;9:43-53.
5. Pallister P, Optiz J. Brief clinical report: disequilibrium syndrome in Montana Hutterites. Am J Med Genet. 1986;22:567-569.
6. Glass H, Boycott K, Adams C, et al. Autosomal recessive cerebellar hypoplasia in the Hutterite population: a syndrome of nonprogressive cerebellar ataxia with mental retardation. Dev Med Child Neurol. 2005;47:691-695.
7. Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 2005;77:477-483.
8. Herz J, Bock HH. Lipoprotein receptors in the nervous system. Annu Rev Biochem. 2002;71:405-434.
9. Trommsdorff M, Gotthardt M, Hiesberger T, et al. Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell. 1999;97:689-701.
10. Tissir F, Goffinet AM. Reelin and brain development. Nat Rev Neuro Sci. 2003;4:496-505.
11. Moheb LA, Tzschach A, Garshasbi M, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008;16:270-273.
12. Ozcelik T, Akarsu N, Uz E, et al. Mutations in the very lowdensity lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci U S A. 2008;105:4232-4236.
13. Turkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S. Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet. 2008;16:1070-1074.
14. Sakai J, Hoshino A, Takahashi S, et al. Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. J Biol Chem. 1994;269:2173-2182.
15. Springer TA. An extracellular beta-propeller module predicted in lipoprotein and scavenger receptors, tyrosine kinases, epidermal growth factor precursor, and extracellular matrix components. J Mol Biol. 1998;283:837-862.
16. May P, Herz J, Bock HH. Molecular mechanisms of lipoprotein receptor signalling. Cell Mol Life Sci. 2005;62:2325-2338.
17. Day IN, Whittall RA, O'Dell SD, et al. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. Hum Mutat. 1997;10:116-127.
18. Graham CA, McClean E, Ward AJ, et al. Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. Atherosclerosis. 1999;147:309-316.
19. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1:445-466.
20. Herz J, Boycott KM, Parboosingh JS. "Devolution" of bipedality. Proc Natl Acad Sci U S A. 2008;105:E25.
21. Hiesberger T, Trommsdorff M, Howell BW, et al. Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron. 1999;24:481-489.
22. D'Arcangelo G, Homayouni R, Keshvara L, Rice DS, Sheldon M, Curran T. Reelin is a ligand for lipoprotein receptors. Neuron. 1999;24:471-479.
23. Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000;26:93-96.
24. Turkmen S, Demirhan O, Hoffmann K, et al. Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. J Med Genet. 2006;43:461-464.
25. Park T-J, Curran T. Crk and Crk-like play essential overlapping roles downstream of disabled-1 in the Reelin pathway. J Neuro Sci. 2008;28:13551-13562.
26. Kantarci S, Al-Gazali L, Hill RS, et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo- acoustico-renal syndromes. Nat Genet. 2007;39:957-959.
27. Simon-Chazottes D, Tutois S, Kuehn M, et al. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics. 2006;87:673-677.
28. Johnson EB, Steffen DJ, Lynch KW, Herz J. Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease. Genomics. 2006;88:600-609.
29. Duchesne A, Gautier M, Chadi S, et al. Identification of a doublet missense substitution in the bovine LRP4 gene as a candidate causal mutation for syndactyly in Holstein cattle. Genomics. 2006;88:610-621.