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.
|
| 2. |
Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
|
| 3. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.
|
| 4. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
|
| 5. |
Neuhann TM et al. (2012) A further patient with van Maldergem syndrome.
|
| 6. |
Mansour S et al. (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
|
| 7. |
Cappello S et al. (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
|
| 8. |
Hoeng JC et al. (2004) Identification of new human cadherin genes using a combination of protein motif search and gene finding methods.
|
| 9. |
Saburi S et al. (2008) Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.
|
| 10. |
NCBI article
NCBI 79633
|
| 11. |
OMIM.ORG article
Omim 612411
|
| 12. |
Orphanet article
Orphanet ID 371950
|
Update: 23. Juni 2025