Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kinesin-like-Protein KIF7

Das KIF7-Gen kodiert ein Kinesin, welches mit Zilien assoziert gefunden wird. Mutationen verursachen autosomal rezessives Joubert-Syndrom 12 und verschiedene weitere Skelettfehlbildungssyndrome.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Al-Gazali-Bakalinova-Syndrom
KIF7
Hydrolethalus 2
KIF7
Acrocallosal Syndrom
KIF7
Joubert-Syndrom 12
KIF7

Referenzen:

1.

Putoux A et. al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

[^]
2.

Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

[^]
3.

Lee JE et. al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

[^]
4.

al-Gazali LI et. al. (1998) Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

[^]
5.

Katoh Y et. al. (2004) Characterization of KIF7 gene in silico.

[^]
6.

Liem KF et. al. (2009) Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.

[^]
7.

Ali BR et. al. (2012) A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

[^]
Update: 23. März 2018