Clinical utility gene card for: Mowat-Wilson syndrome

European Journal of Human Genetics

Volumn 19, Issue 8, 2011, Pages 932-

  Zollino, Marcella ^a   Garavelli, Livia ^b   Rauch, Anita ^c  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b S MARIA NUOVA HOSPITAL   (Italy)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; ARTICLE; CHROMOSOME; COST EFFECTIVENESS ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; PREDICTIVE VALUE; PRIORITY JOURNAL; VALIDATION PROCESS; WILSON DISEASE; CHROMOSOME 2; FACIES; GENETICS; HIRSCHSPRUNG DISEASE; MENTAL DEFICIENCY; MICROCEPHALY; PATHOPHYSIOLOGY;

HOMEODOMAIN PROTEIN; REPRESSOR PROTEIN; ZEB2 PROTEIN, HUMAN;

CHROMOSOMES, HUMAN, PAIR 2; FACIES; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MENTAL RETARDATION; MICROCEPHALY; REPRESSOR PROTEINS;

EID: 79960626987     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.12     Document Type: Article

References (41)

1. Mowat DR, Croaker GDH, Cass DT et al: 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)
2. Adam MP, Bean LJH, Ranger Miller V: Mowat-Wilson syndrome. Gene Reviews www.genetests.org.
3. Garavelli L, Cerruti-Mainardi P: Mowat-Wilson syndrome. Orphanet J Rare Dis 2007; 2: 42.
4. Mowat DR, Wilson MJ, Goossens M: Mowat-Wilson syndrome. J Med Genet 2003; 40: 305-310. (Pubitemid 36613465)
5. Mowat D, Wilson M: Mowat-Wilson syndrome. Chapter 35; in Cassidy SB, Allanson JE (eds): Management of Genetic Syndromes, 3rd edn. Hoboken, NJ: Wiley-Blackwel, 2010.
6. Electronic database information: online Mendelian inheritance in man (OMIM) http://www.ncbi.nlm.nih.gov/Omim/.
7. Wilson M, Mowat D, Goossens M: ZEB2, Mowat-Wilson syndrome, 2007, Section III, Part C, Chapter 40; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Metabolism: The Molecular Basis of Clinical Disorders of Morphogenesis, 2nd edn. Oxford Press; England: Oxford University, 2007.
8. Cacheux V, Dastot-Le Moal F, Kää riäinen H et al: Loss-of-function mutations in SIP1 Smad interacting protein 1 results in a syndromic Hirschsprung disease. Hum Mol Genet 2001; 10: 1503-1510. (Pubitemid 32684892)
9. Garavelli L, Donadio A, Zanacca C et al: Hirschsprung disease, mental retardation, characteristic facial features and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. Am J Med Genet 2003; 116A: 385-388. (Pubitemid 37063596)
10. Kää riäinen H, Wallgren-Pettersson C, Clarke A, Pihko H, Taskinen H, Rintala R: Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children. Clin Dysmorphol 2001; 10: 157-163. (Pubitemid 32587669)
11. Yoneda M, Fujita T, Yamada Y et al: Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. Neurology 2002; 59: 1637-1640. (Pubitemid 35387077)
12. Zweier C, Albrecht B, Mitulla B et al: 'Mowat-Wilson' syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeobox 1 B gene (ZFHX1B). Am J Med Genet 2002; 108: 177-181. (Pubitemid 34202847)
13. Garavelli L, Zollino M, Mainardi PC et al: 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. Review.
14. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goosens M: ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 2007; 0: 1-9.
15. Amiel J, Espinosa-Parrilla Y, Steffann J et al: Large scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet 2001; 69: 1370-1377. (Pubitemid 33124217)
16. Cerruti-Mainardi P, Garavelli L, Pastore G et al: Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a new syndrome probably under-diagnosed. Italian J Pediatr 2005; 31: 116-125. (Pubitemid 41134032)
17. Ishihara N, Yamada K, Yamada Y et al: Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFH1B mutations and deletions at 2q22-24.1. J Med Genet 2004; 41: 387-393. (Pubitemid 38608523)
18. Sasongko TH, Hamim A, Gunadi S, Lee MJ, Koterazawa K, Nishio H: Nonsense mutations of the ZFHX1B gene in two Japanese girgls with Mowat-Wilson syndrome Kobe. J Med Sci 2007; 53: 152-162.
19. Sasso A, Paucic-Kirincic E, Kamber-Makek S, Sindicic N, Brajnovic-Zaputovic S, Brajenovic-Milic B: Mowat-Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8:c.2372delC;p.T791fsX816). Childs Nerv Syst 2008; 24: 615-618.
20. Sztriha L, Espinosa-Parrilla Y, Gururaj A et al: Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). Neuropediatrics 2003; 34: 322-335.
21. Yamada K, Yamada Y, Nomura N et al: Nonsense and frameshift mutations in ZFHX1B, encoding Smad interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. Am J Hum Genet 2001; 69: 1178-1185. (Pubitemid 33124199)
22. Wakamatsu N, Yasukazu Y, Kenichiro Y et al: Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 2001; 27: 369-370. (Pubitemid 32268414)
23. Wilson M, Mowat D, Dastot-LeMood F: Further delineation of the phenotype associated with heterozygous mutation in ZFHX1B. Am J Med Genet 2003; 119A: 257-265. (Pubitemid 37063851)
24. Zweier C, Temple IK, Beemer F et al: Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 2003; 40: 601-605. (Pubitemid 37046914)
25. Zweier C, Thiel CT, Dufke A et al: Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 2005; 48: 97-111. (Pubitemid 40692208)
26. Zweier C, Horn D, Kraus C, Rauch A: Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet 2006; 140A: 869-872.
27. Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA: Phenotypic variability of del(2)(q22-q23): report of a case and review of the literature. Genet Counsel 1994; 5: 11-14. (Pubitemid 24096812)
28. Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Sal A, Gregory-Evans K: Ocular coloboma and high myopia with Hirschsprung disease associated a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet 2004; 131: 86-90. (Pubitemid 39434800)
29. Heinritz W, Zweier C, Froster UG et al: A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet 2006; 140A: 1223-1227. (Pubitemid 43828084)
30. McGaughran J, Sinnott S, Dastot-Le Moal F et al: Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet 2005; 137A: 302-304. (Pubitemid 41262665)
31. Ohtsuka M, Oguni H, Ito Y et al: Mowat-Wilson syndrome affecting 3 siblings. J Child Neurol 2008; 23: 274-278. (Pubitemid 351247619)
32. Adam MP, Schelley S, Gallagher R et al: Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet 2006; 140A: 2730-2741. (Pubitemid 44865059)
33. Adam M, Justice AN, Bean LJH, Fernhoff PM: Mowat-Wilson syndrome with craniosynostosis. Am J Med Genet 2008; 146A: 245-246.
34. Cerruti-Mainardi P, Pastore G, Zweier C, Rauch A: Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. J Med Genet 2004; 41: e16 (http://www.jmedgenet.com/cgi/content/full/41/ 2/e16).
35. Garavelli L, Cerruti-Mainardi P, Virdis R et al: Genitourinary anomalies are frequent in Mowat-Wilson syndrome with deletion/mutation in ZFHX1B (SIP1): report of 3 Italian cases with hypospadias and review. Horm Res 2005; 63: 187-192. (Pubitemid 40875060)
36. Hoffer MJV, Hilhorst-Hofstee Y, Knijnenburg J et al: A 6 Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features. Eur J Med Genet 2007; 50: 149-154. (Pubitemid 46401582)
37. Horn D, Weschke B, Zweier C, Rauch A: Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. Am J Med Genet 2004; 124A: 102-104. (Pubitemid 38139825)
38. Nagaya M, Kato J, Niimi N: Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. J Pediatr Surg 2002; 37: 1117-1122. (Pubitemid 34824049)
39. Silengo M, Ferrero GB, Cortese MG, Canavese F, D'Alonzo G, Papalia F: Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. Am J Med Genet 2003; 118A: 388-390. (Pubitemid 37069992)
40. Silengo M, Ferrero GB, Wakamatsu N: Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. Am J Med Genet 2004; 127A: 109. (Pubitemid 38937219)
41. Strenge S, Heinritz W, Zweier C et al: Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet 2007; 143: 1528-1530. (Pubitemid 47051035)