Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Meckel-Syndrom

Das Meckel-Gruber-Syndrom ist ein seltenes lethales Fehlbildungssyndrom welches viele Organe betrifft. Besonders typische Veränderungen sind die okzipitale Enzephalozele, polyzystische Nieren und Polydaktylie.

Gliederung

Ziliopathie
COACH-Syndrom
Joubert-Syndrom
Lebersche kongenitale Amaurose
Malformationen der Rechts-Links-Achse
Meckel-Syndrom
Meckel-Syndrom 3
TMEM67
Meckel-Syndrom 5
RPGRIP1L
Meckel-Syndrom 6
CC2D2A
Nephronophthise
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
Senior-Loken-Syndrom

Referenzen:

1.

Karmous-Benailly H et. al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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2.

Kim SK et. al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

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3.

Kyttälä M et. al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

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4.

Consugar MB et. al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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5.

Auber B et. al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

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6.

Weatherbee SD et. al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

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7.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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8.

Adams M et. al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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9.

Shaheen R et. al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.

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10.

Frank V et. al. (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

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11.

Shaheen R et. al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

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12.

Roume J et. al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.

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13.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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14.

Simpson JL et. al. (1991) Genetic heterogeneity in neural tube defects.

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15.

Walpole IR et. al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

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16.

Herriot R et. al. (1991) Dandy-Walker malformation in the Meckel syndrome.

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17.

Farag TI et. al. (1990) Phenotypic variability in Meckel-Gruber syndrome.

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18.

Ahdab-Barmada M et. al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.

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19.

Pachì A et. al. (1989) Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case.

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20.

Blankenberg TA et. al. (1987) Pathology of renal and hepatic anomalies in Meckel syndrome.

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21.

None (1986) Distal obstructive uropathy with polydactyly: a new syndrome?

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22.

Rapola J et. al. (1985) Visceral anomalies in the Meckel syndrome.

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23.

Young ID et. al. (1985) High incidence of Meckel's syndrome in Gujarati Indians.

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24.

Fitch N et. al. (1973) The Meckel syndrome with limited expression in relatives.

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25.

Naffah J et. al. (1972) [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

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26.

None (1970) Johann Friedrich Meckel, the Younger (1781-1833).

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27.

Mecke S et. al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

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28.

Hsia YE et. al. (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

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29.

Walbaum R et. al. (1967) [Familial polydactyly with neuro-cranial dysplasia].

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30.

Tucker CC et. al. (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

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31.

Simopoulos AP et. al. (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings.

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32.

None (1984) Johann Friedrich Meckel the Younger (1781-1833).

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33.

None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome.

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34.

Lurie IW et. al. (1984) Meckel syndrome in different populations.

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35.

Salonen R et. al. (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects.

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36.

Majewski F et. al. (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

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37.

Fryns JP et. al. (1980) Prenatal diagnosis of Meckel syndrome.

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38.

Verjaal M et. al. (1980) Oligohydramnios hampering prenatal diagnosis of Meckel syndrome.

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39.

Fraser FC et. al. (1981) Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

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40.

None (1981) Phenotypic variation in Meckel syndrome.

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41.

Plauchu H et. al. (1981) [Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

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42.

Paavola P et. al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

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43.

Summers MC et. al. (1995) Dandy-Walker malformation in the Meckel syndrome.

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44.

Nelson J et. al. (1994) Polydactyly in a carrier of the gene for the Meckel syndrome.

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45.

Wright C et. al. (1994) Meckel syndrome: what are the minimum diagnostic criteria?

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46.

None (1993) On Saraiva and Baraitser and Joubert syndrome: a review.

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47.

Genuardi M et. al. (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

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48.

Al-Gazali LI et. al. (1996) Meckel syndrome and Dandy Walker malformation.

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49.

Paavola P et. al. (1997) Clinical and genetic heterogeneity in Meckel syndrome.

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50.

Gulati R et. al. (1997) Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

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51.

Castilla EE et. al. (1998) Associated anomalies in individuals with polydactyly.

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52.

Paavola P et. al. (1999) High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

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53.

Opitz JM et. al. (2006) Meckel on developmental pathology.

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54.

Logan CV et. al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

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