Hypertrichosis in patients with SURF1 mutations

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 384-388

  Østergaard, Elsebet ^a   Bradinova, Irena ^b   Ravn, Susanne Holst ^c   Hansen, Flemming Juul ^c   Simeonov, Emil ^b   Christensen, Ernst ^c   Wibrand, Flemming ^a   Schwartz, Marianne ^c  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c Rigshospitalet   (Denmark)

Author keywords

CDX deficiency; Hypertrichosis; Leigh syndrome; SURF1

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; FOREHEAD; GENE; GENE MUTATION; HUMAN; HYPERTRICHOSIS; LEIGH DISEASE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SURF1 GENE; SYMPTOMATOLOGY;

FEMALE; HUMANS; HYPERTRICHOSIS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; PROTEINS;

EID: 27444441924     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30972     Document Type: Article

References (31)

1. Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. 2003. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72:101-114.
2. Barrientos A, Barros MH, Valnot I, Rotig A, Rustin P, Tzagoloff A. 2002. Cytochrome oxidase in health and disease. Gene 286:53-63.
3. Birch-Machin MA, Briggs HL, Saborido AA, Bindoff LA, Turnbull DM. 1994. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol 51:35-42.
4. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y. 1999. Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103:428-433.
5. Campos Y, Garcia-Redondo A, Fernandez-Moreno MA, Martinez-Pardo M, Goda G, Rubio JC, Martin MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J. 2001. Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. Ann Neurol 50:409-413.
6. Fritsch C, Lang K, von Schmiedeberg S, Bolsen K, Merk H, Lehmann P, Ruzicka T. 1998. Porphyria cutanea tarda. Skin Pharmacol Appl Skin Physiol 11:321-335.
7. Hoffbuhr KC, Davidson E, Filiano BA, Davidson M, Kennaway NG, King MP. 2000. A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase. J Biol Chem 275:13994-14003.
8. Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Muller-Hocker J, Jedele KB, Meitinger T, Gerbitz KD. 1998. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet 35:895-900.
9. Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Rustin P, Feingold J, Rotig A, Munnich A. 1998. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet 63:428-435.
10. Kleist-Retzow JC, Yao J, Taanman JW, Chantrel K, Chretien D, Cormier-Daire V, Rotig A, Munnich A, Rustin P, Shoubridge EA. 2001. Mutations in SURF1 are not specifically associated with Leigh syndrome. J Med Genet 38:109-113.
11. Krahenbuhl S, Talos C, Wiesmann U, Koppel CL. 1994. Development and evaluation of a spectrophotometric assay fox complex III in isolated mitochondria, tissues and fibroblasts from rats and humans. Clin Chim Acta 230:177-187.
12. Kubota Y, Ishii T, Sugihara H, Goto Y, Mizoguchi M. 1999. Skin manifestations of a patient with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS syndrome). J Am Acad Dermatol 41:469-473.
13. Lazalde B, Sanchez-Urbina R, Nuno-Arana I, Bitar WE, Lourdes Ramirez-Duenas M. 2000. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet 94:421-427.
14. Messenger AG. 2003. The control of hair growth and pigmentation. In: Olsen EA, editor. Disorders of hair growth. Diagnosis and treatment, 2nd edn. New York: McGraw-Hill. pp 49-74.
15. Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. 2003. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 100:605-610.
16. Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A. 2003. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. Neurology 61:991-993.
17. Olsen EA. 2003. Hypertrichosis. In: Olsen EA, editor. Disorders of hair growth. Diagnosis and treatment, 2nd edn. New York: McGraw-Hill. pp 399-439.
18. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. 1999. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SC02, a COX assembly gene. Nat Genet 23:333-337.
19. Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. 2001. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17:374-381.
20. Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK. 2001. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 49:797-800.
21. Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. 2004. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet 128A:195-198.
22. Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M, Tessa A, Palmeri S, Bertini E, Santorelli FM. 2000. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscul Disord 10:450-453.
23. Silvestri G, Mongini T, Odoardi F, Modoni A, deRosa G, Doriguzzi C, Palmucci L, Tonali P, Servidei S. 2000. A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency. Neurology 54:1693-1696.
24. Stenn KS, Paus R. 2001. Controls of hair follicle cycling. Physiol Rev 81: 449-494.
25. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. 1998. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621.
26. Valnot I, Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A. 2000a. A mutation in the human heme A: Farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 9:1245-1249.
27. Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A. 2000b. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104-1109.
28. Wanders RJ, Ruiter JP, Wijburg FA. 1993. Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: Application to mitochondrial encephalomyopathies. Biochim Biophys Acta 19(1181):219-222.
29. Wendelin DS, Pope DN, Mallory SB. 2003. Hypertrichosis. J Am Acad Dermatol 48:161-179.
30. Williams SL, Taanman JW, Hansikova H, Houst'kova H, Chowdhury S, Zeman J, Houstek J. 2001. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis. Mol Genet Metab 73:340-343.
31. Zhu Z, Yao J, Johns T, Fu K, De BI, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. 1998. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343.