Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fraser-Syndrom

Das Fraser-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen in den Genen FRAS1, GRIP1 und FREM2 ausgelöst wird. Sie ist durch Syndaktylie und Kryptophthalmos gekennzeichnet.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Autosomal dominantes Robinow-Syndrom 1
BNAR-Syndrom
Branchio-Oto-Renale Dysplasie
Branchiootische Syndrom
Denys-Drash-Syndrom
Fraser-Syndrom
FRAS1
FREM2
GRIP1
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Mowat-Wilson-Syndrom
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
SERKAL-Syndrom
Syndromische Microphthalmie 6
Vesicoureteraler Reflux
WAGR-Syndrom

Referenzen:

1.

Takamiya K et. al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

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2.

Kiyozumi D et. al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

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3.

Vogel MJ et. al. (2012) Mutations in GRIP1 cause Fraser syndrome.

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4.

Darling S et. al. (1994) A mouse model for Fraser syndrome?

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5.

McGregor L et. al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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6.

Vrontou S et. al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

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7.

Slavotinek A et. al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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8.

Cavalcanti DP et. al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

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9.

van Haelst MM et. al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

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10.

Jadeja S et. al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

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11.

Shafeghati Y et. al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2.

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12.

Ramsing M et. al. (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

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13.

None (1990) Fraser syndrome and mouse 'bleb' mutants.

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14.

Schauer GM et. al. (1990) Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

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15.

Francannet C et. al. (1990) Fraser syndrome with renal agenesis in two consanguineous Turkish families.

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16.

Serville F et. al. (1989) Fraser syndrome: prenatal ultrasonic detection.

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17.

Boyd PA et. al. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

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18.

Greenberg F et. al. (1986) Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome.

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19.

Koenig R et. al. (1986) Cryptophthalmos--syndactyly syndrome without cryptophthalmos.

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20.

Thomas IT et. al. (1986) Isolated and syndromic cryptophthalmos.

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21.

None (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos.

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22.

Gattuso J et. al. (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review.

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23.

Bialer MG et. al. (1988) Syndromic cryptophthalmos.

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24.

Mortimer G et. al. (1985) Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis.

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25.

Ide CH et. al. (1969) Multiple congenital abnormalities associated with cryptophthalmia.

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26.

Azevêdo ES et. al. (1973) Cryptophthalmos in two families from Bahia, Brazil.

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27.

None (1969) [Malformative syndrome with cryptophthalmos].

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28.

Codère F et. al. (1981) Cryptophthalmos syndrome with bilateral renal agenesis.

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29.

Lurie IW et. al. (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.

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30.

Burn J et. al. (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs.

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31.

Stevens CA et. al. (1994) Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.

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32.

Pankau R et. al. (1994) Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

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33.

Andiran F et. al. (1999) Fraser syndrome associated with anterior urethral atresia.

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34.

Elçioglu HN et. al. (2000) Fraser syndrome: diagnosed in a 50-year-old museum specimen.

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35.

Slavotinek AM et. al. (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

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36.

van Haelst MM et. al. (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

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37.

Gupta SP et. al. (1962) CRYPTOPHTHALMOS.

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