Targeted next generation sequencing in patients with inborn errors of metabolism

PLoS ONE

Volumn 11, Issue 5, 2016, Pages

  Yubero, Dèlia ^a   Brandi, Núria ^a,b   Ormazabal, Aida ^a,d   Garcia Cazorla, Àngels ^a,d   Pérez Dueñas, Belén ^a,d   Campistol, Jaime ^a,d   Ribes, Antonia ^c,d   Palau, Francesc ^a,d   Artuch, Rafael ^a,d   Armstrong, Judith ^a,d   Nascimento, A ^e   Ortigoza, J D ^e   Castejon E ^e   Meavilla, S ^e   Garcia Alix A ^e   Fons, C ^e   Ramos, F J ^e   Ortez, C I ^e   Jou, C ^e   Serrano, M ^e   O'Callaghan, M M ^e   Jimenez, C ^e   Casado, M ^e   Sierra, C ^e   Molero, M ^e   Montero, R ^e   Vidal, S ^e   Blasco, L ^e   Gerotina, E ^e   Pacheco, P ^e   Garcia Villoria J ^f   Coll, M J ^f   Giros M ^f   Pons, R ^g   Caceres C ^h   Szlago, M ⁱ   Grimalt, M A ^j   Rosell, J ^j   De Azua, B ^k   Olive M ^l   Martinez F ^m   Martin L ^m   Perez Poyato M S ⁿ   Sariego, A ⁿ   Malaga I ^o   Marti, I ^p   Lopez Laso E ^q   Yapici, Z ^r   Kiziltan, G ^s   Arellano, M ^t   Molera, C ^u   Quintero, J ^u   more..

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

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

^e Institut de Recerca Pediàtrica Hospital Sant Joan de Déu   (Spain)

^f Institut de Bioquimica Clinica Barcelona   (Spain)

^g UNIVERSITY OF ATHENS   (Greece)

^h UNIVERSITY OF EXTREMADURA   (Spain)

ⁱ HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^j HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^k HOSPITAL SON LLÀTZER   (Spain)

^l HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^m HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

ⁿ HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^o HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^p HOSPITAL DONOSTIA   (Spain)

^q HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^r ISTANBUL UNIVERSITY   (Turkey)

^s ISTANBUL UNIVERSITY   (Turkey)

^t HOSPITAL MÚTUA DE TERRASSA   (Spain)

^u HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GENOMIC DNA; GENETIC MARKER;

ADOLESCENT; ARTICLE; BLOOD ANALYSIS; CEREBROSPINAL FLUID ANALYSIS; CHILD; COHORT ANALYSIS; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE CLASSIFICATION; DNA EXTRACTION; FEMALE; GENE TARGETING; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; URINALYSIS; VALIDATION PROCESS; CLASSIFICATION; DNA MUTATIONAL ANALYSIS; GENETIC MARKER; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM, INBORN ERRORS; MUTATION; PROCEDURES;

DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; METABOLISM, INBORN ERRORS; MUTATION;

EID: 84974721068     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0156359     Document Type: Article

References (29)

1. Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, et al. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015; 134: 967-980. doi: 10.1007/s00439-015-1575-0 PMID: 26077850
2. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014; 312: 1880-1887. doi: 10.1001/jama.2014.14604 PMID: 25326637
3. Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, et al. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. Eur J Hum Genet. 2014; 22: 528-534. doi: 10.1038/ejhg.2013.175 PMID: 23942198
4. Yu H, van Karnebeek C, Sinclair G, Hill A, Cui H, Zhang VW, et al. Detection of a novel intragenic rear-rangement in the creatine transporter gene by next generation sequencing. Mol Genet Metab. 2013; 110: 465-471. doi: 10.1016/j.ymgme.2013.09.018 PMID: 24140398
5. Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, et al. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med. 2013; 15: 106-114. doi: 10.1038/gim.2012.104 PMID: 22899091
6. Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013; 13: 379-387. doi: 10.1016/j.mito.2013.02.001 PMID: 23473862
7. Zhang W, Cui H, Wong LJ. Application of next generation sequencing to molecular diagnosis of inherited diseases. Top Curr Chem. 2014; 336: 19-45. doi: 10.1007/128-2012-325 PMID: 22576358
8. Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2014; 16: 176-182. doi: 10.1038/gim.2013.99 PMID: 23928913
9. Feng Y, Chen D, Wang GL, Zhang VW, Wong LJ. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing. Genet Med. 2015; 17: 99-107. doi: 10.1038/gim.2014.80 PMID: 25032985
10. Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, et al. Clinical validation of targeted next-generation sequencing for inherited disorders. Arch Pathol Lab Med. 2015; 139: 204-10. doi: 10.5858/arpa.2013-0625-OA PMID: 25611102
11. Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn. 2011; 11: 855-868. doi: 10.1586/erm.11.70 PMID: 22022947
12. Blau N, Duran M, Blaskovics ME. Physician's guide to the laboratory diagnosis of metabolic diseases. Springer; 2003.
13. Blau N, Duran M, Gibson KM. Laboratory guide to the methods in biochemical genetics. Springer-Verlag Berlin Heidelberg; 2008.
14. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17: 405-424. doi: 10.1038/gim.2015.30 PMID: 25741868
15. Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicingenhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mut. 2010; 31: 437-444. doi: 10.1002/humu.21206 PMID: 20120036
16. Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, et al. Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903 +469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Res. 2015; 43: 4627-4639. doi: 10.1093/nar/gkv275 PMID: 25878036
17. Li N, Jia H, Liu Z, Tao J, Chen S, Li X, et al. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Sci Rep. 2015; 5: 15769. doi: 10.1038/srep15769 PMID: 26503515
18. Cao YY, Qu YJ, Song F, Zhang T, Bai JL, Jin YW, et al. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing. Mol Genet Metab. 2014; 113: 261-266. doi: 10.1016/j.ymgme.2014.10.004 PMID: 25456745
19. Gu Y, Lu K, Yang G, Cen Z, Yu L, Lin L, et al. Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. PLoS One. 2014; 9: e94100. doi: 10.1371/journal.pone.0094100 PMID: 24705691
20. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015; 116: 139-145. doi: 10.1016/j.ymgme.2015.08.011 PMID: 26385305
21. Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, et al. Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy. J Hum Genet. 2014; 59: 593-597. doi: 10.1038/jhg.2014.69 PMID: 25231368
22. Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, et al. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet. 2004; 36: 1003-1007. PMID: 15286788
23. Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet. 2004; 36: 999-1002. PMID: 15286787
24. Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, et al. Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. Gastroenterology 2009; 136: 872-882. doi: 10.1053/j.gastro.2008.10.055 PMID: 19185582
25. Singer D, Camargo SM. Collectrin and ACE2 in renal and intestinal amino acid transport. Channels (Austin). 2011; 5: 410-523.
26. De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure. 2013; 22: 803-811. doi: 10.1016/j.seizure.2013.07.003 PMID: 23890838
27. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013; 13: 342 doi: 10.1007/s11910-013-0342-7 PMID: 23443458
28. Molero-Luis M, Serrano M, Ormazábal A, Pérez-Duen&tild;as B, García-Cazorla A, Pons R, et al. Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. Dev Med Child Neurol. 2013; 55: 559-566. doi: 10.1111/dmcn.12116 PMID: 23480488
29. Pérez-Duen&tild;as B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, et al. Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol. 2011; 68: 615-621. doi: 10.1001/archneurol.2011.80 PMID: 21555636