MKS1 — Meckel Syndrome Type 1

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

MKS1 (BBS13) encodes a protein involved in ciliogenesis and centrosome migration. Originally identified as the causative gene for Meckel syndrome, it was later found to also cause Bardet-Biedl syndrome, highlighting the clinical overlap between ciliopathies.

Gene description: MKS1 (BBS13) encodes a protein involved in ciliogenesis and centrosome migration. Originally identified as the causative gene for Meckel syndrome, it was later found to also cause Bardet-Biedl syndrome, highlighting the clinical overlap between ciliopathies.

Clinical significance: Mutations cause Meckel syndrome type 1 (severe) and BBS13 (milder). Demonstrates the phenotypic continuum of ciliopathies from lethal (Meckel) to viable (BBS).

Inheritance: Autosomal Recessive