Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kabuki-Syndrom 1

Das Kabuki-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im KMT2D-Gen hervorgerufen wird. Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels und des Skelettes mit Kleinwuchs und mentaler Retardierung.

Gliederung

Kabuki-Syndrom
KDM6A
Kabuki-Syndrom 1
KMT2D
Kabuki-Syndrom 2

Referenzen:

1.

Miyake N et. al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.

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2.

Micale L et. al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

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3.

Van Laarhoven PM et. al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

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4.

Ng SB et. al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

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5.

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6.

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7.

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8.

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9.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

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17.

Burke LW et. al. (1995) Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.

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18.

Hughes HE et. al. (1994) Coarctation of the aorta in Kabuki syndrome.

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19.

Franceschini P et. al. (1993) Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

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20.

Galán-Gómez E et. al. (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

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21.

Kobayashi O et. al. (1996) Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome.

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22.

Li M et. al. (1996) Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

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23.

Silengo M et. al. (1996) Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome.

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24.

Tsukahara M et. al. (1997) Dominant inheritance of Kabuki make-up syndrome.

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25.

Lerone M et. al. (1997) Ectodermal abnormalities in Kabuki syndrome.

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26.

Fryns JP et. al. (1998) Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome.

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27.

Lo IF et. al. (1998) Interstitial Dup(1p) with findings of Kabuki make-up syndrome.

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28.

None (1998) Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.

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29.

Ewart-Toland A et. al. (1998) Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

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30.

Kawame H et. al. (1999) Phenotypic spectrum and management issues in Kabuki syndrome.

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31.

Kokitsu-Nakata NM et. al. (1999) Lower lip pits and anorectal anomalies in Kabuki syndrome.

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32.

Makita Y et. al. (1999) Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.

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33.

McGaughran JM et. al. (2000) Biliary atresia in Kabuki syndrome.

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34.

Donadio A et. al. (2000) Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?

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35.

Igawa HH et. al. (2000) Inner ear abnormalities in Kabuki make-up syndrome: report of three cases.

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36.

Courtens W et. al. (2000) Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

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37.

van Haelst MM et. al. (2000) Unexpected life-threatening complications in Kabuki syndrome.

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38.

Matsune K et. al. (2001) Craniofacial and dental characteristics of Kabuki syndrome.

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39.

Selicorni A et. al. (2001) Biliary atresia and Kabuki syndrome: another case with long-term follow-up.

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40.

Digilio MC et. al. (2001) Congenital heart defects in Kabuki syndrome.

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41.

McGaughran J et. al. (2001) Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.

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42.

Kurosawa K et. al. (2002) Patellar dislocation in Kabuki syndrome.

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43.

Wessels MW et. al. (2002) Kabuki syndrome: a review study of three hundred patients.

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44.

Shotelersuk V et. al. (2002) Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

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45.

Mihçi E et. al. (2002) Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome.

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46.

Hinrichs B et. al. (2002) Defective clavicles in Kabuki syndrome.

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47.

Ming JE et. al. (2003) Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

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48.

Milunsky JM et. al. (2003) Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

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49.

White SM et. al. (2004) Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

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50.

Miyake N et. al. (2004) On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

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51.

Geneviève D et. al. (2004) Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

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52.

Hoffman JD et. al. (2005) Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

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53.

Turner C et. al. (2005) Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.

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54.

Hoffman JD et. al. (2005) Immune abnormalities are a frequent manifestation of Kabuki syndrome.

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55.

Bottani A et. al. (2006) No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.

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56.

Maas NM et. al. (2007) The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

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57.

Kuniba H et. al. (2008) Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.

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