"A publication broke ground in early 2022, suggesting that loss-of-function variants in IFT140 were associated with Autosomal Dominant 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. Interestingly, some individuals have been reported with cystic kidney disease, an observation also seen in knockout mouse models. Perhaps it was these observations that made researchers query IFT140 in various ADPKD databases." (source, https://perspectives.nsgc.org/Article/ift140-new-horizons-in-cystic-kidney-disease)

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