Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

Journal of Medical Genetics

Volumn 48, Issue 9, 2011, Pages 606-609

  Tsurusaki, Yoshinori ^a   Osaka, Hitoshi ^b   Hamanoue, Haruka ^a   Shimbo, Hiroko ^b   Tsuji, Megumi ^b   Doi, Hiroshi ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   Miyake, Noriko ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; VALPROIC ACID;

ADOLESCENT; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHROMOSOME ANALYSIS; DYSTONIA; EXOME; GENE DUPLICATION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HEMIZYGOTE; HETEROZYGOTE; HUMAN; JAPANESE; LEUKOENCEPHALOPATHY; MALE; MOTHER; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NEUROIMAGING; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID FUNCTION; TONIC SEIZURE; TRACHEOMALACIA; X CHROMOSOME; X LINKED LEUKOENCEPHALOPATHY;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; EXOME; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MOLECULAR SEQUENCE DATA; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; PEDIGREE;

EID: 80052584149     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.083535     Document Type: Article

References (19)

1. Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008;26:1135-45.
2. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008;452:872-6.
3. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-6.
4. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloǧlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009;106:19096-101.
5. Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR. Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007;39:1522-7.
6. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010;42:30-5.
7. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005;65:6071-9.
8. Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008;18:1851-8.
9. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004;74:168-75.
10. Friesema EC, Grueters A, Biebermann H, Krude H, von Moers A, Reeser M, Barrett TG, Mancilla EE, Svensson J, Kester MH, Kuiper GG, Balkassmi S, Uitterlinden AG, Koehrle J, Rodien P, Halestrap AP, Visser TJ. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004;364:1435-7.
11. Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet 2008;16:1029-37.
12. Vaurs-Barriere C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Vinas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol 2009;65:114-18.
13. Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocr Rev 2002;23:38-89.
14. Friesema EC, Ganguly S, Abdalla A, Manning Fox J, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003;41:40128-35.
15. Lafreniere RG, Carrel L, Willard HF. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum Mol Genet 1994;3:1133-9.
16. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology 2006;147:4036-43.
17. Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertie AL, Passos-Bueno MR, Visser TJ. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet 2006;43:457-60.
18. Namba N, Etani Y, Kitaoka T, Nakamoto Y, Nakacho M, Bessho K, Miyoshi Y, Mushiake S, Mohri I, Arai H, Taniike M, Ozono K. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. Eur J Pediatr 2008;167:785-91.
19. Herzovich V, Vaiani E, Marino R, Dratler G, Lazzati JM, Tilitzky S, Ramirez P, Iorcansky S, Rivarola MA, Belgorosky A. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 2007;67:1-6.