Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 452-457

  Clarke, Nigel F ^a,b   Maugenre, Svetlana ^a,b   Vandebrouck, Aurélie ^a,b   Urtizberea, J Andoni ^c   Willer, Tobias ^d   Peat, Rachel A ^a,b   Gray, Françoise ^c   Bouchet, Céline ^e   Manya, Hiroshi ^f   Vuillaumier Barrot, Sandrine ^e   Endo, Tamao ^f   Chouery, Eliane ^g   Campbell, Kevin P ^d   Mégarbané, André ^a,g,h   Guicheney, Pascale ^a,b,i  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e BICHAT HOSPITAL   (France)

^f TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

^h Institut Jerome Lejeune   (France)

ⁱ Institute OfCardiometabolism and Nutrition   (France)

Author keywords

alpha dystroglycan; congenital muscular dystrophy 1D; DNA duplication; muscle eye brain disease

Indexed keywords

ALPHA DYSTROGLYCAN; COMPLEMENTARY DNA; LARGE PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CEREBELLUM DISEASE; CHILD; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CODON; CONGENITAL MUSCULAR DYSTROPHY TYPE 1D; COPY NUMBER VARIATION; DYSARTHRIA; EXON; FAMILY; FEMALE; GENE; GENE LOCUS; GENE REARRANGEMENT; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GLYCOSYLATION; HOMOZYGOTE; HUMAN; INDEL MUTATION; INTRON; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; STRABISMUS;

EID: 79952748436     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.212     Document Type: Article

References (18)

1. Martin PT: Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol 2006; 2: 222-230
2. Lane PW, Beamer TC, Myers DD: Myodystrophy, a new myopathy on chromosome 8 of the mouse. J Hered 1976; 67: 135-138
3. Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R: Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 1995; 54: 601-606
4. Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE: Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 2001; 28: 151-154 (Pubitemid 32538060)
5. Lee Y, Kameya S, Cox GA et al: Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 2005; 30: 160-172 (Pubitemid 41316560)
6. Longman C, Brockington M, Torelli S et al: Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003; 12: 2853-2861 (Pubitemid 37407122)
7. van Reeuwijk J, Grewal PK, Salih MA et al: Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007; 121: 685-690 (Pubitemid 46916967)
8. Mercuri E, Messina S, Bruno C et al: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009; 72: 1802-1809
9. Godfrey C, Clement E, Mein R et al: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735 (Pubitemid 47511718)
10. Yoshida-Moriguchi T, Yu L, Stalnaker SH et al: O-mannosyl phosphorylation of alphadystroglycan is required for laminin binding. Science 2010; 327: 88-92
11. Xiong H, Kobayashi K, Tachikawa M et al: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun 2006; 350: 935-941 (Pubitemid 44584182)
12. Michele DE, Barresi R, Kanagawa M et al: Post-translational disruption of dystroglycanligand interactions in congenital muscular dystrophies. Nature 2002; 418: 417-422 (Pubitemid 34826841)
13. Ervasti JM, Campbell KP: Membrane organization of the dystrophin-glycoprotein complex. Cell 1991; 66: 1121-1131 (Pubitemid 121001402)
14. Kimura K, Wakamatsu A, Suzuki Y et al: Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome Res 2006; 16: 55-65 (Pubitemid 43048934)
15. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat Genet 1992; 2: 292-300
16. Manya H, Bouchet C, Yanagisawa A et al: Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Neuromuscul Disord 2008; 18: 45-51 (Pubitemid 351181396)
17. Manzini MC, Gleason D, Chang BS et al: Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat 2008; 29: E231-E241
18. Inoue K, Lupski JR: Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 2002; 3: 199-242. (Pubitemid 35217436)