Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

Journal of Human Genetics

Volumn 53, Issue 6, 2008, Pages 554-558

  Fellman, Vineta ^a,b   Lemmelä, Susanna ^c   Sajantila, Antti ^c   Pihko, Helena ^a   Järvelä, Irma ^c,d  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b LUND UNIVERSITY   (Sweden)

^c UNIVERSITY OF HELSINKI   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Encephalopathy; Fetal growth retardation; Lactic acidosis; Metabolic brain disease; Respiratory chain complex III

Indexed keywords

CHAPERONE; PROTEIN BCS 1 L;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FINLAND; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MALE; MITOCHONDRION; NEWBORN DISEASE; PHENOTYPE; SCREENING;

ACIDOSIS, LACTIC; AMINO ACIDS; CHOLESTASIS; ELECTRON TRANSPORT COMPLEX III; FEMALE; FETAL GROWTH RETARDATION; FINLAND; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; IRON OVERLOAD; MALE; MITOCHONDRIAL DISEASES; MUTATION; NEONATAL SCREENING; PHENOTYPE; POINT MUTATION; PREGNANCY; SYNDROME;

EID: 44449145860     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0284-0     Document Type: Article

References (24)

1. Cruciat CM, Hell K, Fölsch H, Neupert W, Stuart RA (1999) Bcs1p, an AAAfamily member, is a chaperone for the assembly of the cytochrome bc1 complex. Embo J 18:226-233
2. D́Aurelio M, Gajewski CD, Lenaz G, Manfredi G (2006) Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. Hum Mol Genet 15:2157-2169
3. De Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A (2001) A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29:57-60
4. De Meirleir L, Seneca S, Damis E, Sepulchre B, Hoorens A, Gerlo E, Garcia Silva MT, Hernandez EM, Lissens W, Van Coster R (2003) Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am J Med Genet 121:126-131
5. Di Mauro S, Schon EA (2003) Mechanisms of disease: mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668
6. Dipple KM, McCabe ER (2000) Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 71:43-50
7. Dipple KM, Phelan JK, McCabe ER (2001) Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab 74:45-50
8. Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO (1998) Iron overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 351:490-493
9. Fellman V (2002) The GRACILE syndrome, a neonatal lethal metabolic disorders with iron overload. Blood Cells Mol Dis 29:444-450
10. Fellman V, Visapää I, Vujic M, Wennerholm U-B, Peltonen L (2002) Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. Acta Obstetr Gynecol Scand 81:398-402
11. Fellman V (2006) Respiratory complex III deficiencies in the newborn infant. Drug Disc Dis Mech 3:421-427
12. Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I, Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 6:1241-1252
13. Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A (2003) A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 113:118-122
14. Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE (2007) Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med 356:809-819
15. Kotarsky H, Imran T, Mannisto S, Heikinheimo M, Hansson S, Fellman V (2007) BCS1L is expressed in critical regions for neural development during ontogenesis in mice. Gen Expr Patterns 3:266-273
16. Morris AAM, Taylor RW, Birch-Manin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM (1995) Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 9:407-411
17. Nobrega FG, Nobrega MP, Tzagoloff A (1992) BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae. Embo J 11:3821-3829
18. Norio R (2003) Finnish disease heritage I: characteristics, causes, background. Hum Genet 112:441-456
19. Robinson BH (2006) Lactic acidemia and mitochondrial disease. Mol Genet Metab 89:3-13
20. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, ÓBrian Smith E, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJC, Vogel H (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114:925-931
21. Syvänen AC, Aalto-Setala K, Harju L, Kontula K, Soderlund H (1990) A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8:684-692
22. Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rotig A (1999) A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet 104:460-406
23. Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlelm B, Verloo P, Leroy J (2001) Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr Res 50:658-665
24. Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (2002) GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 4:863-876