Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zytoplasmatisches Dynein 2 leichte Intermediärkette 1

Das DYNC2LI1-Gen kodiert ein mikrotubuläres Motorprotein was für den retrograden transport in primären Zilien verantwortlich ist. Mutationen führen zu autosomal rezessivem SRTD-Syndrom 15.

Diagnostik:

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

Krankheiten:

SRTD-Syndrom (Short-rib thoracic dysplasia) 15
DYNC2LI1

Referenzen:

1.

Grissom PM et. al. (2002) Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.

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2.

Mikami A et. al. (2002) Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells.

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3.

Perrone CA et. al. (2003) A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.

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4.

Taylor SP et. al. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

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5.

Kessler K et. al. (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

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Update: 28. März 2018