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IFT140

IFT140

Intraflagellar transport protein 140; a component of the IFT-A complex essential for retrograde ciliary transport in photoreceptors. Mutations cause a spectrum of ciliopathies including non-syndromic LCA/EOSRD and retinitis pigmentosa (RP80). OMIM classifies IFT140 retinal disease as RP80 (617781); no official LCA subtype number assigned.

Henüz Hedefli Tedavi Yok

Kromozomal Lokus

16p13.3

Kalıtım

Otozomal Resesif

Sıklık

<1% LCA vakalarının

OMIM #617781

Temel Klinik Özellikler

  • 1No official LCA subtype number — classified as RP80 in OMIM
  • 2Intraflagellar transport defect (retrograde IFT-A complex)
  • 3Can present as non-syndromic LCA/EOSRD or retinitis pigmentosa
  • 4Listed as an LCA gene in GeneReviews

Sendromik İlişkiler

IFT140 mutasyonlu hastalar diğer organların olası tutulumu açısından izlenmelidir:

  • Short-rib thoracic dysplasia 9 (SRTD9)
  • Mainzer-Saldino syndrome
  • Nephronophthisis

Sources: