Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Schuster, Jens ^a   Khan, Tahir N ^b   Tariq, Muhammad ^b   Shaiq, Pakeeza A ^a   Mäbert, Katrin ^a   Baig, Shahid M ^b   Klar, Joakim ^a  

^a SCIENCE FOR LIFE LABORATORY   (Sweden)

^b NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

Author keywords

BSCL2; Exome sequencing; Lipodystrophy

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BSCL2 GENE; CASE REPORT; CONGENITAL GENERALIZED LIPODYSTROPHY; EMBRYO; EXOME; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEALTH CARE QUALITY; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MUSCLE HYPERTROPHY; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; SKELETON MALFORMATION;

CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENE EXPRESSION; GENE ORDER; GTP-BINDING PROTEIN GAMMA SUBUNITS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

EID: 84903536874     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-71     Document Type: Article

References (19)

1. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu 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(45):19096-19101.
2. Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanne-Chantelot C, Letourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One 2010, 5(10):e13630.
3. Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011, 69(3):464-470.
4. Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, Boerkoel CF, Gahl WA, Tifft CJ. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology 2012, 79(2):123-126.
5. Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat 2012, 33(4):614-626.
6. Futema M, Plagnol V, Whittall RA, Neil HA, Humphries SE. Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet 2012, 49(10):644-649.
7. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012, 367(20):1921-1929.
8. Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. Eur J Neurol 2013, 20(3):486-492.
9. Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet 2013, 58(2):113-115.
10. Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet 2013, 83(5):457-461.
11. Magre J, Delepine M, Khallouf E, Gedde-Dahl T, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001, 28(4):365-370.
12. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010, 38(16):e164.
13. Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011, 96(11):3313-3325.
14. Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl T, Delepine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Megarbane A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, et al. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 2002, 39(10):722-733.
15. Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 2002, 31(1):21-23.
16. Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009, 119(9):2623-2633.
17. Kim CA, Delepine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magre J. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 2008, 93(4):1129-1134.
18. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004, 36(3):271-276.
19. Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 2013, 14(4):295-300.