Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: Further delineation of a cobblestone-like phenotype

Neurogenetics

Volumn 14, Issue 1, 2013, Pages 77-83

  Quattrocchi, Carlo C ^a   Zanni, Ginevra ^a   Napolitano, Antonio ^a   Longo, Daniela ^a   Cordelli, Duccio Maria ^b   Barresi, Sabina ^a   Randisi, Francesco ^a   Valente, Enza Maria ^a,c,d   Verdolotti, Tommaso ^a   Genovese, Elisabetta ^a   Specchio, Nicola ^a,d   Vitiello, Giuseppina ^c   Spiegel, Ronen ^e   Bertini, Enrico ^a   Bernardi, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

^e HAEMEK MEDICAL CENTER   (Israel)

Author keywords

Diffusion tensor imaging; GPR56; Magnetic resonance; Polymicrogyria

Indexed keywords

GPR56 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

APRAXIA; ARTICLE; BILATERAL FRONTOPARIETAL POLYMICROGYRIA; BRAIN MAPPING; BRAIN SIZE; CEREBELLUM CORTEX; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; EPILEPSY; EXON; FEMALE; GENETIC DISORDER; HUMAN; HUMAN TISSUE; INDEL MUTATION; MALE; MICROGYRIA; MISSENSE MUTATION; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PONS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; WHITE MATTER LESION;

BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; COBBLESTONE LISSENCEPHALY; COHORT STUDIES; DIFFUSION TENSOR IMAGING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED;

EID: 84873705828     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0352-7     Document Type: Article

References (12)

1. Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132:3199-3230
2. Oh DY, Kim K, Kwon HB, Seong JY (2006) Cellular and molecular biology of orphan G protein-coupled receptors. Int Rev Cytol 252:163-218
3. Li S, Jin Z, Koirala S et al (2008) GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci 28:5817-5826
4. Bahi-Buisson N, Poirier K, Boddaert N et al (2010) GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain 133:3194-3209
5. Piao X, Hill RS, Bodell A et al (2004) G protein-coupled receptor-dependent development of human cortex. Science 303:2033-2036
6. Parrini E, Ferrari AR, Dorn T et al (2009) Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 mutations. Epilepsia 50:1344-1353
7. Luo R, Jeong SJ, Jin Z, Strokes N, Li S, Piao X (2011) G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proc Natl Acad Sci U S A 108:12925-12930
8. Chiang NY, Hsiao CC, Huang YS et al (2011) Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. J Biol Chem 286:14215-14225
9. Luo R, Jin Z, Deng Y, Strokes N, Piao X (2012) Disease-associated mutations prevent GPR56-collagen III interaction. PLoS One 7:e29818
10. Jeong SJ, Li S, Luo R, Strokes N, Piao X (2012) Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. PLoS One 7:e29767
11. Labelle-Dumais C, Dilworth DJ, Harrington EP et al (2011) COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 7:e1002062
12. Clement E, Mercuri E, Godfrey C et al (2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64:573-582