Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Orofaciodigitales Syndrom 01

Das Papillon-Léage-Psaume-Syndrom ist eine x-chromosomal dominante Erkrankung, die durch Mutationen im OFD1-Gen ausgelöst wird. Die Erkrankung gehört in die Gruppe der Ziliopathien und deshalb werden neben den typischen Skelettfehlbildungen auch neuronale und viszerale Entwicklungsstörungen gefunden. Bei männlichen Anlageträgern verläuft die Erkrankung lethal.

Gliederung

Orofaciodigitales Syndrom
Orofaciodigitales Syndrom 01
OFD1
Orofaciodigitales Syndrom 04
Orofaciodigitales Syndrom 06
Orofaciodigitales Syndrom 16

Referenzen:

1.

Wettke-Schäfer R et. al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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2.

Ferrante MI et. al. (2001) Identification of the gene for oral-facial-digital type I syndrome.

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3.

Rakkolainen A et. al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

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4.

Morisawa T et. al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

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5.

Thauvin-Robinet C et. al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

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6.

Ferrante MI et. al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

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7.

Zullo A et. al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

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8.

Solomon LM et. al. (1970) Pilosebaceous dysplasia in the oral-facial-digital syndrome.

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9.

Reinwein H et. al. (1966) [Studies on a family with orofaciodigital syndrome].

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10.

Annerén G et. al. (1984) Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

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11.

Cohen MM et. al. (1981) Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1.

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12.

Feather SA et. al. (1997) The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

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13.

Feather SA et. al. (1997) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

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14.

Morán-Barroso V et. al. (1998) Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?

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15.

Gedeon AK et. al. (1999) Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

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16.

Shotelersuk V et. al. (1999) Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

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17.

Degner D et. al. (1999) [Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings].

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18.

GORLIN RJ et. al. (1961) Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

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19.

FUHRMANN W et. al. (1960) [On the genetics of the combination of harelip-cleft palate and syndactylia].

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20.

GORLIN RJ et. al. (1962) Orodigitofacial dysostosis--a new syndrome. A study of 22 cases.

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21.

KUSHNICK T et. al. (1963) OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT.

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22.

DOEGE TC et. al. (1964) STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

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23.

RUESS AL et. al. (1962) The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.

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24.

Gurrieri F et. al. (2007) Oral-facial-digital syndromes: review and diagnostic guidelines.

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25.

None (2009) Are the oral-facial-digital syndromes ciliopathies?

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26.

Chetty-John S et. al. (2010) Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

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27.

Bruel AL et. al. (2017) Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

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28.

Townes PL et. al. (1976) Further heterogeneity of the oral-facial-digital syndromes.

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29.

Melnick M et. al. (1975) Orofaciodigital syndrome, type I: a phenotypic and genetic analysis.

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30.

Harrod MJ et. al. (1976) Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I.

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31.

Larralde de Luna M et. al. (1992) Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.

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32.

Goodship J et. al. (1991) A male with type I orofaciodigital syndrome.

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33.

Salinas CF et. al. (1991) Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

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34.

Lipp MJ et. al. (1990) The oral-facial-digital syndrome: case report of a mother and daughter.

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35.

Connacher AA et. al. (1987) Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.

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36.

Donnai D et. al. (1987) Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

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37.

Towfighi J et. al. (1985) Neuropathology of oral-facial-digital syndromes.

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38.

Wahrman J et. al. (1966) The oral-facial-digital syndrome: a male-lethal condition in a boy with 47/xxy chromosomes.

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Update: 11. Oktober 2018

 

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