Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

Molecular Vision

Volumn 19, Issue , 2013, Pages 2393-2406

  Katagiri, Satoshi ^a,b   Yoshitake, Kazutoshi ^c   Akahori, Masakazu ^a   Hayashi, Takaaki ^b   Furuno, Masaaki ^d   Nishino, Jo ^c   Ikeo, Kazuho ^c   Tsuneoka, Hiroshi ^b   Iwata, Takeshi ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF GENETICS   (Japan)

^d RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE;

ADULT; ALMS1 GENE; ALOPECIA; ALSTROM SYNDROME; ARTICLE; CASE REPORT; CATARACT; CLINICAL FEATURE; COLOR VISION TEST; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; ELECTRORETINOGRAPHY; EXOME; FEMALE; FOOT MALFORMATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLUCOSE BLOOD LEVEL; HAND MALFORMATION; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERINSULINEMIA; HYPERLIPIDEMIA; HYPERTENSION; HYPOGONADISM; JAPANESE; KIDNEY FAILURE; LIVER DYSFUNCTION; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; ONSET AGE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA DEGENERATION; SCOLIOSIS; SHORT STATURE; SLIT LAMP; STOP CODON; SUBCLINICAL HYPOTHYROIDISM; VISUAL ACUITY; VISUAL FIELD; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION;

ADULT; ALSTROM SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; CONSANGUINITY; EXOME; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PROTEINS; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84888356747     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (46)

1. Paisey RB, Carey CM, Bower L, Marshall J, Taylor P, Maffei P, Mansell P. Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf) 2004; 60: 228-31. [PMID: 14725685].
2. Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN. Alström syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007; 2: 49-[PMID: 18154657].
3. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 2002; 31: 74-8. [PMID: 11941369].
4. Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 2002; 31: 79-83. [PMID: 11941370].
5. Hearn T, Spalluto C, Phillips VJ, Renforth GL, Copin N, Hanley NA, Wilson DI. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 2005; 54: 1581-7. [PMID: 15855349].
6. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 2003; 426: 570-4. [PMID: 14654843].
7. Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet 2005; 14: 2323-33. [PMID: 16000322].
8. Graser S, Stierhof YD, Lavoie SB, Gassner OS, Lamla S, Le Clech M, Nigg EA. Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol 2007; 179: 321-30. [PMID: 17954613].
9. Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007; 3: e8-[PMID: 17206865].
10. Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet 2008; 45: 257-67. [PMID: 18178628].
11. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7: 125-48. [PMID: 16722803].
12. Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet 2007; 28: 113-25. [PMID: 17896309].
13. Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 2007; 28: 1114-23. [PMID: 17594715].
14. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005; 165: 675-83. [PMID: 15795345].
15. Koç E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A. Rare case of Alström syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology (Carlton) 2006; 11: 81-4. [PMID: 16669965].
16. Akdeniz N, Bilgili SG, Aktar S, Yuca S, Calka O, Kilic A, Kosem M. Alström syndrome with acanthosis nigricans: a case report and literature review. Genet Couns 2011; 22: 393-400. [PMID: 22303800].
17. Dyer DS, Wilson ME, Small KW, Pai GS. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus 1994; 31: 272-4. [PMID: 7807310].
18. Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alström syndrome. Report of 22 cases and literature review. Ophthalmology 1998; 105: 1274-80. [PMID: 9663233].
19. Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet 2007; 15: 1193-202. [PMID: 17940554].
20. Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol 1989; 107: 624-31. [PMID: 2658617].
21. Russell-Eggitt IM, Taylor DS, Clayton PT, Garner A, Kriss A, Taylor JF. Leber's congenital amaurosis-a new syndrome with a cardiomyopathy. Br J Ophthalmol 1989; 73: 250-4. [PMID: 2713302].
22. Ikeda Y, Morita Y, Matsuo Y, Akanuma Y, Itakura H. A case of Alström syndrome associated with situs inversus totalis and characteristic liver cirrhosis. Nippon Naika Gakkai Zasshi 1974; 63: 1303-11. [PMID: 4477178].
23. Awazu M, Tanaka T, Sato S, Anzo M, Higuchi M, Yamazaki K, Matsuo N. Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature. Am J Med Genet 1997; 69: 13-6. [PMID: 9066877].
24. Awazu M, Tanaka T, Yamazaki K, Kato S, Higuchi M, Matsuo N. A 27-year-old woman with Alström syndrome who had liver cirrhosis. Keio J Med 1995; 44: 67-73. [PMID: 7658647].
25. Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008; 26: 1135-45. [PMID: 18846087].
26. Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet 2008; 24: 133-41. [PMID: 18262675].
27. Mardis ER. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 2008; 9: 387-402. [PMID: 18576944].
28. Ansorge WJ. Next-generation DNA sequencing techniques. New Biotechnol 2009; 25: 195-203. [PMID: 19429539].
29. Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010; 19: R2R145-51. [PMID: 20705737].
30. Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparso T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jorgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 2010; 42: 969-72. [PMID: 20890277].
31. Kim DW, Nam SH, Kim RN, Choi SH, Park HS. Whole human exome capture for high-throughput sequencing. Genome 2010; 53: 568-74. [PMID: 20616878].
32. Hodges E, Rooks M, Xuan Z, Bhattacharjee A, Benjamin Gordon D, Brizuela L, Richard McCombie W, Hannon GJ. Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing. Nat Protoc 2009; 4: 960-74. [PMID: 19478811].
33. Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci 2010; 51: 1643-50. [PMID: 19850834].
34. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-60. [PMID: 19451168].
35. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-303. [PMID: 20644199].
36. Cingolani P, Platts A. Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012; 6: 80-92. [PMID: 22728672].
37. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 2013; Chapter 7: Unit7 20.
38. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-9. [PMID: 2779627].
39. Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andreasson S, Marshall JD, Moller C. Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. Arch Ophthalmol 2008; 126: 51-7. [PMID: 18195218].
40. Vingolo EM, Salvatore S, Grenga PL, Maffei P, Milan G, Marshall J. High-resolution spectral domain optical coherence tomography images of Alström syndrome. J Pediatr Ophthalmol Strabismus 2010; 47 Online: e1-3. [PMID: 21158358].
41. Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet 1997; 73: 150-61. [PMID: 9409865].
42. Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A 2005; 135: 96-8. [PMID: 15809999].
43. Hung YJ, Jeng C, Pei D, Chou PI, Wu DA. Alström syndrome in two siblings. J Formos Med Assoc 2001; 100: 45-9. [PMID: 11265260].
44. Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell 2010; 21: 3617-29. [PMID: 20844083].
45. Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Holland P, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G, Woods CG. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 2005; 42: e10-[PMID: 15689433].
46. Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome. J Clin Endocrinol Metab 2006; 91: 3110-6. [PMID: 16720663].