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This is a Animal Study study (also classified as: In Vitro Study, Observational).

August 21, 2025Clinical GeneticsOpen Access

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

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Loss of function in TMEM17 leads to severe disruptions in its stability and ciliary function, causing various ciliopathies.
The identified homozygous missense variant Arg94Trp was found in two unrelated fetuses, linking TMEM17 to Meckel syndrome and expanding its phenotypic associations.
Functional analysis revealed significant consequences for Sonic Hedgehog signaling due to TMEM17 destabilization and mislocalization.
Findings confirm TMEM17's role as a genuine ciliopathy gene, with associated conditions ranging from viable syndromes to fetal-lethal outcomes.

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Functional analyses reveal TMEM17 variants cause loss-of-function in ciliopathies, suggesting a new phenotypic spectrum.

Boutaud et al. (2025) studied this question.

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