Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Okada, Tomoo ^a   Miyashita, Michio ^a   Fukuhara, Junji ^a   Sugitani, Masahiko ^a   Ueno, Takahiro ^a   Samson Bouma, Marie Elisabeth ^b   Aggerbeck, Lawrence P ^b  

^a NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; APOLIPOPROTEIN B48; CHYLOMICRON; FAT DROPLET; GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SAR1 ADP RIBOSYLATION FACTOR; UNCLASSIFIED DRUG; MONOMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; SAR1B PROTEIN, HUMAN;

ANDERSON DISEASE; ARTICLE; CASE REPORT; CHROMOSOME 7; CHYLOMICRON RETENTION DISEASE; DIARRHEA; DNA SEQUENCE; ELECTRON MICROSCOPY; FAILURE TO THRIVE; GENE; GENE MUTATION; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; HYPOCHOLESTEROLEMIA; INFANT; INTESTINE CELL; INTESTINE SECRETION; JAPANESE; JEJUNUM BIOPSY; KARYOTYPE; LIPID BLOOD LEVEL; MALABSORPTION; ONSET AGE; PHENOTYPE; RARE DISEASE; SARB1 GENE; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME DELINEATION; UNIPARENTAL DISOMY; ASIAN; BIOPSY; CHEMISTRY; ENDOSCOPY; GENETICS; HYPOBETALIPOPROTEINEMIA; INTESTINE; MALE; METABOLISM; MOSAICISM; PATHOLOGY; PRESCHOOL CHILD; STEATORRHEA; TRISOMY;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOPSY; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; ENDOSCOPY; HUMANS; HYPOBETALIPOPROTEINEMIAS; INTESTINES; MALABSORPTION SYNDROMES; MALE; MONOMERIC GTP-BINDING PROTEINS; MOSAICISM; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SILVER-RUSSELL SYNDROME; STEATORRHEA; TRISOMY; UNIPARENTAL DISOMY;

EID: 81355149193     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-78     Document Type: Article

References (26)

1. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E, Orphanet Journal of Rare Diseases 2010 5 24 37 10.1186/1750-1172-5-24 20920215
2. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabès JP, Abifadel M, Aparicio T, Guenedet JC, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck LP, Samson-Bouma ME, Orphanet Journal of Rare Diseases 2011 6 1 10.1186/1750-1172-6- 1 21235735
3. COPII-mediated vesicle formation at a glance. Jensen D, Schekman R, J Cell Sci 2011 124 1 4 21172817
4. The biogenesis of chylomicrons. Mansbach CM, Siddiqi SA, Annu Rev Physiol 2010 72 315 333 20148678
5. A Novel Multi-protein Complex Is Required for the Generation of the Pre-chylomicron Transport Vesicle from Intestinal ER. Siddiqi S, Saleem U, Abumrad N, Davidson N, Storch J, Siddiqi SA, Mansbach CM, J Lipid Res 2010 51 1918 1928 10.1194/jlr.M005611 20237389
6. Relation of triglyceride metabolism and coronary artery disease. Studies in the postprandial state. Patsch JR, Miesenbock G, Hopferwieser T, Muhlberger V, Knapp E, Dunn JK, Gotto AM, Patsch W, Arterioscler Thromb 1992 12 1336 1345 10.1161/01.ATV.12.11.1336 1420093
7. Maternal uniparental disomy 7 and Silver-Russell syndrome-Clinical update and comparison with other subgroups. Kotzot D, Eur J Med Genet 2008 51 444 451 10.1016/j.ejmg.2008.06.001 18655849
8. Russell-Silver syndrome. Eggermann T, Am J Med Genet C Semin Med Genet 2010 154C 355 364 10.1002/ajmg.c.30274 20803658
9. Uniparental disomy and human disease: an overview. Yamazawa K, Ogata T, Ferguson-Smith AC, Am J Med Genet C Semin Med Genet 2010 154C 329 34 10.1002/ajmg.c.30270 20803655
10. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation. Kotzot D, Eur J Hum Genet 2004 12 343 346 10.1038/sj.ejhg.5201158 14747835 (Pubitemid 38660183)
11. Epigenotype-phenotype correlations in Silver-Russell syndrome. Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kuman S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CLS, Van Haelst MM, Willoughby C, Temple IK, Cobben JM, J Med Genet 2010 47 760 768 10.1136/jmg.2010.079111 20685669
12. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC, J Med Genet 1999 36 837 842 10544228 (Pubitemid 29520574)
13. Complex and segmental uniparental disomy updated. Kotzot D, J Med Genet 2008 45 545 556 10.1136/jmg.2008.058016 18524837
14. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A, J Med Genet 2009 46 192 197 19066168
15. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Sherer SW, Hannula-Jouppi K, Am J Hum Genet 2006 79 965 972 10.1086/508902 17033973 (Pubitemid 44763411)
16. Growth parameters in maternal uniparental disomy. Kotzot D, Eur J Pediatr 2007 166 1143 1149 10.1007/s00431-006-0396-5 17203278 (Pubitemid 47476626)
17. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Botstein D, Risch N, Nat Genet Suppl 2003 33 228 237 10.1038/ng1090 (Pubitemid 36278833)
18. The strength of selection on ultraconserved elements in the human genome. Chen CTL, Wang JC, Cohen BA, Am J Hum Genet 2007 80 692 704 10.1086/513149 17357075 (Pubitemid 46564406)
19. Deletion of ultraconserved elements yields viable mice. Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM, PLoS Biology 2007 5 1906 1911 (Pubitemid 47416589)
20. Long-range control of gene expression: Emerging mechanisms and disruption in disease. Kleinjan DA, van Heyningen V, Am J Hum Genet 2005 76 8 32 10.1086/426833 15549674 (Pubitemid 40023762)
21. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Fromme JC, Ravazzola M, Hamamoto S, Al-Balwi M, Eyaid W, Boyadjiev SA, Cosson P, Schekman R, Orci L, Dev Cell 2007 13 623 634 10.1016/j.devcel.2007.10.005 17981132 (Pubitemid 350011989)
22. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H, Nat Genet 2009 41 936 940 10.1038/ng.405 19561605
23. Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure. Merte J, Jensen D, Wright K, Sarsfield S, Wang Y, Schekman R, Ginty DD, Nat Cell Biol 2010 12 41 46 10.1038/ncb2002 19966784
24. VLDL exits from the endoplasmic reticulum in a specialized vesicle, the VLDL transport vesicle, in rat primary hepatocytes. Siddiqi SA, Biochem J 2008 413 333 342 10.1042/BJ20071469 18397176
25. The Identification of the SNARE-complex Required for the Fusion of VLDL Transport Vesicle with Hepatic cis-Golgi. Siddiqi S, Mani AM, Siddiqi SA, Biochem J 2010 429 391 401 10.1042/BJ20100336 20450495
26. Protein export at the ER: loading big collagens into COPII carriers. Malhotra V, Erlmann P, The EMBO J 2011 30 3475 3480 10.1038/emboj.2011.255