A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

Journal of Inherited Metabolic Disease

Volumn 32, Issue 1, 2009, Pages 109-119

  Steinberg, Steven J ^a   Snowden, A ^a   Braverman, N E ^b   Chen, L ^c   Watkins, P A ^a   Clayton, P T ^d   Setchell, K D R ^e   Heubi, J E ^e   Raymond, G V ^a   Moser, A B ^a   Moser, H W ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PEROXIN; PEROXIN 10; PHYTANIC ACID; PIPECOLIC ACID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; BILE ACID METABOLISM; CASE REPORT; CELL CULTURE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; EXON; FATTY ACID METABOLISM; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NYSTAGMUS; PEROXISOME; ZELLWEGER SYNDROME;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; FEMALE; FIBROBLASTS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEROXISOMES; RECEPTORS, CYTOPLASMIC AND NUCLEAR; ZELLWEGER SYNDROME;

EID: 59749105870     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0969-8     Document Type: Article

References (30)

1. Baas JC, van de Laar R, Baas JCM, et al (2002) Plasma pipecolic acid is frequently elevated in non-peroxisomal disease. J Inherit Metab Dis 25(8): 699-701. doi: 10.1023/A:1022889400302.
2. Bjorkhem I, Sisfontes L, Bostrom B, Kase BF, Blomstrand R (1986) Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J Lipid Res 27(7): 786-791.
3. 27 bile acids but normal fibroblast branched-chain fatty acid oxidation. J Inherit Metab Dis 19(6): 761-768. doi: 10.1007/ BF01799170.
4. Ferdinandusse S, Overmars SH, Denis S, Waterham HR, Wanders RJ, Vreken P (2001) Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J Lipid Res 42(1): 137-141.
5. Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8(10): 1893-1900. doi: 10.1093/hmg/8.10.1893.
6. Gootjes J, Schmohl F, Mooijer PAW, et al (2004a) Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: Implications for other inborn errors of metabolism. Hum Mutat 24(2): 130-139. doi: 10.1002/humu.20062.
7. Gootjes J, Skovby F, Christensen E, Wanders RJA, Ferdinandusse S (2004b) Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. Neurology 62(11): 2077-2081.
8. Gould SJ, Raymond GV, Valle D (2001) The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3181-3217.
9. Hanson RF, Williams GC, Hachey D, Sharp HL (1977) Hepatic lesions and hemolysis following administration of 3alpha, 7alpha, 12alpha-trihydroxy-5beta-cholestan-26-oyl taurine to rats. J Lab Clin Med 90(3): 536-548.
10. Kelley R (1991) Quantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometry. In: Hommes F, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 205-218.
11. Mahmood A, Raymond GV, Dubey P, Peters C, Moser HW (2007) Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: A comparison study. Lancet Neurol 6(8): 687-692. doi: 10.1016/S1474-4422(07)70177-1.
12. Mathis RK, Watkins JB, Szczepanik-Van Leeuwen P, Lott IT (1980) Liver in the cerebro-hepato-renal syndrome: Defective bile acid synthesis and abnormal mitochondria. Gastroenterology 79(6): 1311-1317.
13. Mills PB, Struys E, Jakobs C, et al (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12(3): 307-309. doi: 10.1038/nm1366.
14. Moser AB, Rasmussen M, Naidu S, et al (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127(1): 13-22. doi: 10.1016/S0022-3476(95)70250-4.
15. Moser HW, Moser AB (1991) Measurement of saturated very long chain fatty acids in plasma. In: Hommes F, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 177-191.
16. Moser HW, Raymond GV, Lu SE, et al (2005) Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol 62(7): 1073-1080. doi: 10.1001/archneur.62.7.1073.
17. Peduto A, Baumgartner MR, Verhoeven NM, et al (2004) Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders. Mol Genet Metab 82(3): 224-230. doi: 10.1016/j.ymgme.2004.04.010.
18. Raas-Rothschild A, Wanders RJ, Mooijer PA, et al (2002) A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet 70(4): 1062-1068. doi: 10.1086/339766.
19. Roels F, Saudubray JM, Giros M, et al (2003) Peroxisome mosaics. Adv Exp Med Biol 544: 97-106.
20. Roscher A, Molzer B, Bernheimer H, Stockler S, Mutz I, Paltauf F (1985) The cerebrohepatorenal (Zellweger) syndrome: An improved method for the biochemical diagnosis and its potential value for prenatal detection. Pediatr Res 19(9): 930-933. doi: 10.1203/00006450-198509000-00013.
21. Setchell KD, Bragetti P, Zimmer-Nechemias L, et al (1992) Oral bile acid treatment and the patient with Zellweger syndrome. Hepatology 15(2): 198-207. doi: 10.1002/hep.1840150206.
22. Setchell KD, Heubi JE, Bove KE, et al (2003) Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy. Gastroenterology 124(1): 217-232. doi: 10.1053/gast.2003.50017.
23. Setchell KD, Heubi JE (2006) Defects in bile acid biosynthesis-diagnosis and treatment. J Pediatr Gastroenterol Nutr 43(Supplement 1): S17-S22. doi: 10.1097/01.mpg.0000226386.79483.7b.
24. Steinberg S, Chen L, Wei L, et al (2004) The PEX Gene Screen: Molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab 83(3): 252-263. doi: 10.1016/ j.ymgme.2004.08.008.
25. Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW (2006) Peroxisome biogenesis disorders. Biochim Biophys Acta 1763(12): 1733-1748. doi: 10.1016/j.bbamcr.2006.09.010.
26. Wanders RJ, Kos M, Roest B, et al (1984) Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem Biophys Res Commun 123(3): 1054-1061. doi: 10.1016/ S0006-291X(84)80240-5.
27. Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ (1998) Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet 63(2): 347-359. doi: 10.1086/301963.
28. Warren DS, Wolfe BD, Gould SJ (2000) Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. Hum Mutat 15(6): 509-521. doi: 10.1002/ 1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#.
29. Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. JComput Biol 11(2-3): 377-394. doi: 10.1089/1066527041410418.
30. Zenger-Hain J, Craft DA, Rizzo WB (1992) Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid. In: Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. New York: Wiley-Liss, 399-407.