Consultations in molecular diagnostics: Avoiding pitfalls in molecular genetic testing case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of mowat-wilson syndrome

Journal of Molecular Diagnostics

Volumn 13, Issue 3, 2011, Pages 363-367

  Kluk, Michael Joseph ^a,b   An, Yu ^a,c   James, Philip ^a   Coulter, David ^a   Harris, David ^a   Wu, Bai Lin ^a,b,c   Shen, Yiping ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c School of Life Sciences   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE STUDY; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; GENETIC DISORDER; GENETIC SCREENING; GERMLINE MICRONUCLEUS; HUMAN; MEDICAL TECHNOLOGY; MOLECULAR GENETICS; MOWAT WILSON SYNDROME; SOMATIC CELL GENETICS; ADOLESCENT; CASE REPORT; CHILD; CHROMOSOME 2; CHROMOSOME DELETION; FACIES; FEMALE; GENE ORDER; GENETICS; HIRSCHSPRUNG DISEASE; MALE; MENTAL DEFICIENCY; MICROCEPHALY;

HOMEODOMAIN PROTEIN; REPRESSOR PROTEIN; ZEB2 PROTEIN, HUMAN;

ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENE ORDER; GENETIC TESTING; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; REPRESSOR PROTEINS;

EID: 79954626489     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.01.008     Document Type: Article

References (20)

1. Stankiewicz P, Beaudet AL: Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay and idiopathic mental retardation. Curr Opin Genet Dev 2007, 17:182-192 (Pubitemid 46843553)
2. Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M: Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 2009, 52:161-169
3. Edelmann L, Hirschhorn K: Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009, 1151: 157-166
4. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V: Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet 2001, 98:92-100 (Pubitemid 32041855)
5. Lenz W: [Recessive, sex-limited microphthalmia with multiple abnormalities.] German. Z Kinderheilkd 1955, 77:384-390
6. Goldberg MF, McKusick VA: X-linked colobomatous microphthalmos and other congenital anomalies: a disorder resembling Lenz's dysmorphogenetic syndrome. Am J Ophthalmol 1971, 71:1128-1133
7. Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM: Homozygous nonsense mutations in KIAA1279 are associated withmalformations of the central and enteric nervous systems. Am J Hum Genet 2005, 77:120-126 (Pubitemid 40848042)
8. Goldberg RB, Shprintzen RJ: Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol 1981, 1:185-189 (Pubitemid 12231289)
9. Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC, Chia NL, Wilson MJ: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 1998, 35:617-623 (Pubitemid 28371969)
10. Garavelli L, Cerruti Mainardi P: Review: Mowat-Wilson syndrome. Orphanet J Rare Dis 2007, 2:42
11. Garavelli L, Zollino M, Cerruti Mainardi P, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G: Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009, 149A:417-426
12. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JTC, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L: Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A 2006, 140A:2730-2741 (Pubitemid 44865059)
13. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M: ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 2007, 28:313-321 (Pubitemid 46542917)
14. Saunders CJ, Zhao W, Ardinger HH: Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A 2009, 149A:2527-2531
15. Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A: Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 2003, 40:601-605 (Pubitemid 37046914)
16. Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N: Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet 2004, 41:387-393 (Pubitemid 38608523)
17. Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H: Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009, 11:139-146
18. Andrieux J, Sheth F: Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies. Indian J Exp Biol 2009, 47:779-791
19. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD: Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011, 37:6-14
20. Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, Woodward KJ, Andrews RM, Langford C, Vetrie D: Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005, 76:750-762 (Pubitemid 40563097)