Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mowat-Wilson-Syndrom

Mikrozephalie, mentale Retardierung, und unterschiedliche Gesichtsveränderungen, mit und ohne Morbus Hirschsprung ist eine autosomal rezessive Erkrankung, die durch Mutationen im ZEB2-Gen hervorgerufen wird. Neben den Genannten finden sich gelegentlich auch urogenitale Fehlbildungen.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Branchio-Oto-Renale Dysplasie
Branchiootische Syndrom
Denys-Drash-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Mowat-Wilson-Syndrom
ZEB2
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
WAGR-Syndrom

Referenzen:

1.

de Pontual L et. al. (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

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2.

Mowat DR et. al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

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3.

Wakamatsu N et. al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

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4.

Cacheux V et. al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

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5.

Yamada K et. al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

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6.

Amiel J et. al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

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7.

Zweier C et. al. (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.

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8.

Yoneda M et. al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

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9.

Zweier C et. al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

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10.

Ishihara N et. al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

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11.

McGaughran J et. al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

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12.

Zweier C et. al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

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13.

Heinritz W et. al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

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14.

Dastot-Le Moal F et. al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.

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15.

Ghoumid J et. al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

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16.

Hurst JA et. al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

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17.

Tanaka H et. al. () Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.

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18.

Ohnuma K et. al. (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

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19.

Garavelli L et. al. (2003) Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

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20.

Mowat DR et. al. (2003) Mowat-Wilson syndrome.

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21.

Wilson M et. al. (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

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22.

Horn D et. al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

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23.

Cerruti Mainardi P et. al. (2004) Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

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24.

Silengo M et. al. (2004) Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

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25.

Zweier C et. al. () Clinical and mutational spectrum of Mowat-Wilson syndrome.

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26.

Adam MP et. al. (2006) Clinical features and management issues in Mowat-Wilson syndrome.

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27.

Strenge S et. al. (2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

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28.

Engenheiro E et. al. (2008) Mowat-Wilson syndrome: an underdiagnosed syndrome?

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29.

Cecconi M et. al. (2008) Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

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30.

Garavelli L et. al. (2009) Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

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31.

Evans E et. al. (2012) The behavioral phenotype of Mowat-Wilson syndrome.

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32.

Cordelli DM et. al. (2013) Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

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