Parent-of-origin effect in transthyretin related amyloid polyneuropathy

Amyloid

Volumn 16, Issue 3, 2009, Pages 149-150

  Bonaïti, Bernard ^a,b   Alarcon, Flora ^b,c   Bonaïti Pellié, Catherine ^b,c   Planté Bordeneuve, Violaine ^c,d  

^a UMR1313 GÉNÉTIQUE ANIMALE ET BIOLOGIE INTÉGRATIVE   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d HENRI MONDOR HOSPITAL   (France)

Author keywords

Amyloidosis; Familial amyloid polyneuropathy; Genetics; Transthyretin

Indexed keywords

MITOCHONDRIAL DNA; PREALBUMIN;

AMYLOID NEUROPATHY; ARTICLE; CPG ISLAND; GENE MUTATION; HEREDITY; HETEROZYGOTE; PRIORITY JOURNAL;

AGED; AMYLOID NEUROPATHIES, FAMILIAL; ANIMALS; FEMALE; FRANCE; HETEROZYGOTE; HUMANS; LIKELIHOOD FUNCTIONS; MALE; MIDDLE AGED; MUTATION; PARENTS; PENETRANCE; PHENOTYPE; PORTUGAL; PREALBUMIN;

EID: 70849132548     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120903093944     Document Type: Article

References (8)

1. Said G, Ropert A, Faux N. Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: Aclinicopathological study. Neurology 1984;34:1025-1032.
2. Planté-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, Bonaïti-Pellié C. Genetic study of transthyretin amyloid neuropathies: Carrier risks among French and Portuguese families. J Med Genet 2003;40:e120.
3. Hellman U, Alarcon F, Lundgren HE, Suhr OB, Bonaiti-Pellié C, Planté-Bordeneuve V. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid: J Protein Fold Dis 2008;15:181-186.
4. Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, Nylander PO, Teixeira A, Saraiva MJ, Costa PP. Geographical distribution of TTR met30 carriers in northern Sweden: Discrepancy between carrier frequency and prevalence rate. J Med Genet 1994;31:351-354.
5. Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 1995;60:512-521.
6. Alarcon F, Bourgain C, Gauthier-Villars M, Planté-Bordeneuve V, Stoppa-Lyonnet D, Bonaïti-Pellié C. PEL: An unbiased method for estimating age dependent genetic disease risk from pedigree data unselected for family history. Genet Epidemiol 2009;33:379-385.
7. Okamura K, Hagiwara-Takeuchi Y, Li T, Vu TH, Hirai M, HattoriM, Sakaki Y, Hoffman AR, Ito T. Comparative genome analysis of themouse imprinted gene Impact and its nonimprinted human homolog IMPACT: Toward the structural basis for species-specific imprinting. Genome Res 2000;10:1878-1889.
8. Olsson M, Hellman U, Planté-Bordeneuve V, Jonasson J, La°ng K, Suhr OB. Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients. Clin Genet 2009;75:163-168.