Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 73-77

  Tort, Frederic ^a,b   García Silva, María Teresa ^c   Ferrer Cortès, Xènia ^a   Navarro Sastre, Aleix ^a,b   Garcia Villoria, Judith ^a,b   Coll, Maria Josep ^a,b   Vidal, Enrique ^d   Jiménez Almazán, Jorge ^d   Dopazo, Joaquín ^d   Briones, Paz ^a,b,e   Elpeleg, Orly ^f   Ribes, Antonia ^a,b  

^a INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^e CSIC   (Spain)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

3 Methylglutaconic; Exome; MEGDEL; SERAC1

Indexed keywords

AMINOTRANSFERASE; PEPTIDES AND PROTEINS; SERINE ACTIVE SITE CONTAINING 1 PROTEIN; UNCLASSIFIED DRUG; CARBOXYLESTERASE; SERAC1 PROTEIN, HUMAN;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ARTICLE; CEREBELLUM ATROPHY; CHILD; CLINICAL EXAMINATION; CONVERGENT STRABISMUS; DYSKINESIA; EXOME; FAILURE TO THRIVE; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; HYPERAMMONEMIA; HYPERBILIRUBINEMIA; JAUNDICE; LEIGH DISEASE; METABOLIC ACIDOSIS; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RESPIRATORY ALKALOSIS; RESPIRATORY DISTRESS; STOP CODON; STRABISMUS; ADOLESCENT; ADULT; CASE REPORT; GENETICS; HIGH THROUGHPUT SEQUENCING; INBORN ERROR OF METABOLISM; INFANT; MALE; MUTATION; PATHOLOGY;

URIA;

ADOLESCENT; ADULT; CARBOXYLIC ESTER HYDROLASES; CHILD; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; MUTATION;

EID: 84882814856     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.021     Document Type: Article

References (23)

1. Wortmann S.B., Kluijtmans L.A., Engelke U.F., Wevers R.A., Morava E. The 3-methylglutaconic acidurias: what's new?. J. Inherit. Metab. Dis. 2010, 35:13-22.
2. Narisawa K., Gibson K.M., Sweetman L., Nyhan W.L., Duran M., Wadman S.K. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J. Clin. Invest. 1986, 77:1148-1152.
3. Duran M., Beemer F.A., Tibosch A.S., Bruinvis L., Ketting D., Wadman S.K. Inherited 3-methylglutaconic aciduria in two brothers-another defect of leucine metabolism. J. Pediatr. 1982, 101:551-554.
4. Barth P.G., Scholte H.R., Berden J.A., Van der Klei-Van Moorsel J.M., Luyt-Houwen I.E., Van 't Veer-Korthof E.T., Van der Harten J.J., Sobotka-Plojhar M.A. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J. Neurol. Sci. 1983, 62:327-355.
5. Bione S., D'Adamo P., Maestrini E., Gedeon A.K., Bolhuis P.A., Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat. Genet. 1996, 12:385-389.
6. Sheffer R.N., Zlotogora J., Elpeleg O.N., Raz J., Ben-Ezra D. Behr's syndrome and 3-methylglutaconic aciduria. Am. J. Ophthalmol. 1992, 114:494-497.
7. Anikster Y., Kleta R., Shaag A., Gahl W.A., Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 2001, 69:1218-1224.
8. Davey K.M., Parboosingh J.S., McLeod D.R., Chan A., Casey R., Ferreira P., Snyder F.F., Bridge P.J., Bernier F.P. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J. Med. Genet. 2006, 43:385-393.
9. Ojala T., Polinati P., Manninen T., Hiippala A., Rajantie J., Karikoski R., Suomalainen A., Tyni T. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr. Res. 2012, 72:432-437.
10. Gunay-Aygun M. 3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol. Genet. Metab. 2005, 84:1-3.
11. Sperl W., Jesina P., Zeman J., Mayr J.A., Demeirleir L., VanCoster R., Pícková A., Hansíková H., Houst'ková H., Krejcík Z., Koch J., Smet J., Muss W., Holme E., Houstek J. Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscul. Disord. 2006, 16:821-829.
12. Wortmann S.B., Rodenburg R.J., Jonckheere A., de Vries M.C., Huizing M., Heldt K., van den Heuvel L.P., Wendel U., Kluijtmans L.A., Engelke U.F., Wevers R.A., Smeitink J.A., Morava E. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 2009, 132:136-146.
13. Jonckheere A.I., Smeitink J.A., Rodenburg R.J. Mitochondrial ATP synthase: architecture, function and pathology. J. Inherit. Metab. Dis. 2012, 35:211-225.
14. Wortmann S., Rodenburg R.J., Huizing M., Loupatty F.J., de Koning T., Kluijtmans L.A., Engelke U., Wevers R., Smeitink J.A., Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol. Genet. Metab. 2006, 88:47-52.
15. Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H., Schuurs-Hoeijmakers J.H., Kulik W., Lammens M., Christin C., Kluijtmans L.A., Rodenburg R.J., Nijtmans L.G., Grünewald A., Klein C., Gerhold J.M., Kozicz T., van Hasselt P.M., Harakalova M., Kloosterman W., Barić I., Pronicka E., Ucar S.K., Naess K., Singhal K.K., Krumina Z., Gilissen C., van Bokhoven H., Veltman J.A., Smeitink J.A., Lefeber D.J., Spelbrink J.N., Wevers R.A., Morava E., de Brouwer A.P. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat. Genet. 2012, 44:797-802.
16. Wortmann S.B., Duran M., Anikster Y., Barth P.G., Sperl W., Zschocke J., Morava E., Wevers R.A. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J. Inherit. Metab. Dis. 2013, 10.1007/s10545-012-9580-0.
17. Tanaka K., West-Dull A., Hine D.G., Lynn T.B., Lowe T. Gas chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin. Chem. 1980, 26:847-1853.
18. Guitart M., Andreu A.L., García-Arumi E., Briones P., Quintana E., Gómez-Foix A.M., García-Martínez C. FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes. Mitochondrion 2009, 9:266-272.
19. Montero R., Artuch R., Briones P., Nascimento A., Garcia-Cazorla A., Vilaseca M.A., S Nchez-Alc Zar J.A., Navas P., Montoya J., Pineda M. Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders. Biofactors 2005, 25:109-115.
20. Edvardson S., Shaag A., Kolesnikova O., Gomori J.M., Tarassov I., Einbinder T., Saada A., Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 2007, 81:857-862.
21. Vanier M.T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M.C., Pentchev P.G., Revol A., Louisot P. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim. Biophys. Acta 1991, 1096:328-337.
22. Houtkooper R.H., Turkenburg M., Poll-The BT, Karall D., Pérez-Cerdá C., Morrone A., Malvagia S., Wanders R.J., Kulik W., Vaz F.M. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim. Biophys. Acta 2009, 788:2003-2014.
23. Bamshad M.J., Ng S.B., Bigham A.W., Tabor H.K., Emond M.J., Nickerson D.A., Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 2011, 12:745-755.