IFT140

A Face of RPLizziUSA

Disease Category: autosomal recessive
Patient Population: eight+
Clinical Trials: None at this time
Institution(s) Conducting Research: —

Where things stand · Treatment

Treatment options

None known

Where things stand · Clinical trials

Studies that may be relevant to review

Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.

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Brief description

A clear, everyday-language overview of this gene.

A publication broke ground in early 2022, suggesting that loss-of-function variants in IFT140 were associated with Polycystic Kidney Disease (ADPKD) (Senum, 2022). Months later, another publication confirmed this association (Chang, 2022). Unlike the most common causes of ADPKD (PKD1, PKD2), those with ADPKD-IFT140 tend to have fewer kidney and liver cysts and better kidney function over a longer period of time, meaning they are less likely to require dialysis and transplant. Prior to this, IFT140 was only associated with two recessive conditions: Short-Rib Thoracic Dysplasia (SRTD9) and non-syndromic Retinitis Pigmentosa (RP80). SRTD9 is characterized by progressive kidney disease, bone abnormalities (like constricted ribcage or polydactyly), and vision loss. (Source: https://perspectives.nsgc.org/Article/ift140-new-horizons-in-cystic-kidney-disease)

Support, accessibility and family guidance(the same for every gene)

This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.

Ask before helping: People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
Low-vision rehabilitation: Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
Accessible technology: Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
School and work: Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
Emotional and community support: A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
Genetic counselling: A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.

Last reviewed: not yet reviewedReviewer: —

Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.