Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome [4]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 13, 2007, Pages 1528-1530

  Strenge, Sibylle ^a   Heinritz, Wolfram ^a   Zweier, Christiane ^b   Rauch, Anita ^b   Rolle, Udo ^a   Merkenschlager, Andreas ^a   Froster, Ursula G ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BRONCHOSCOPY; CASE REPORT; FACIES; FEMALE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; KARYOTYPING; LETTER; MALFORMATION SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; MITRAL VALVE STENOSIS; MOWAT WILSON SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY ARTERY MALFORMATION; PULMONARY ARTERY SLING; TRACHEA STENOSIS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FEMALE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; PULMONARY ARTERY; REPRESSOR PROTEINS; SYNDROME; TRACHEAL STENOSIS;

EID: 34447304048     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31801     Document Type: Letter

References (14)

1. 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. 2006. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet Part A 140A:2730-2741.
2. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. 2007. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 0:1-9.
3. Heinritz W, Zweier C, Froster LJG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. 2006. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet Part A 140A:1223-1227.
4. 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. 2004. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet 41:387-393.
5. Koch A, Hofbeck M, Gerling S, Buheitel G, Singer H. 2000. [Partial anomalous origin of the left pulmonary artery]. Z Kardiol 89:118-121.
6. Mainardi PC, Pastore G, Zweier C, Rauch A. 2004. Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: A well defined clinical entity. J Med Genet 41:e16.
7. McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M. 2005. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. Am J Med Genet Part A 137A:302-304.
8. Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC, Chia NL, Wilson MJ. 1998. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. Am J Med Genet 35:617-623.
9. Mowat DR, Wilson MJ, Goossens M. 2003. Mowat-Wilson syndrome. J Med Genet 40:305-310.
10. Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. 2003. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. Am J Med Genet Part A 119A:257-265.
11. Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. 2002. "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 homeo box 1B gene. Am J Med Genet 108:177-181.
12. Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A. 2003. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 40:601-605.
13. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bemasconi S, Bianchi P, Bier A, Devriendt K, Dimitrow B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kää riäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Nylansted Krogh L, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. 2005. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet 48:97-111.
14. Zweier C, Horn D, Kraus C, Rauch A. 2006. Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet Part A 140A:869-872.