Protocadherin Fat 4
Das FAT4-Gen kodiert ein Protocadherin welches bei der Regulation der Zellpolarität beteiligt ist. Mutationen werden bei den autosomal rezessiven Erkrankungen Van Maldergem-Syndrom 2 und Hennekam-Lymphangiectasie-Lymphödem-Syndrom 2 gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.
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2. |
Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
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3. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.
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4. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
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5. |
Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.
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6. |
Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
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7. |
Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
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8. |
Hoeng JC et al. (2004) Identification of new human cadherin genes using a combination of protein motif search and gene finding methods.
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9. |
Saburi S et al. (2008) Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.
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10. |
NCBI article
NCBI 79633
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11. |
OMIM.ORG article
Omim 612411
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12. |
Orphanet article
Orphanet ID 371950
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Update: 14. August 2020