CHRDL1 is a human protein-coding gene whose name stands for chordin like 1. It is located on the X chromosome at Xq23 and encodes a secreted protein involved in bone morphogenetic protein signalling.
Older imported wording placed CHRDL1 on chromosome 3p25.3. That is not correct. Current NCBI records place CHRDL1 on Xq23.
Gene and Protein
CHRDL1 encodes chordin-like protein 1, also known in some sources as ventroptin. The protein is a bone morphogenetic protein antagonist, meaning it can bind BMP ligands and reduce their signalling activity.
NCBI lists CHRDL1 as a protein-coding gene on the X chromosome. The record also notes alternative transcript variants and aliases including CHL, MGC1, MGCN and VOPT.
Biological Role
CHRDL1 is mainly discussed in relation to eye development. BMP signalling helps regulate tissue patterning during development, and CHRDL1 appears to contribute to normal development of the anterior segment of the eye.
The gene has also been studied in retinal and neural development, but the strongest clinical link is with X-linked megalocornea.
Clinical Significance
Pathogenic variants in CHRDL1 are associated with isolated congenital megalocornea. This condition involves enlarged corneas and a deep anterior chamber, usually without the raised intraocular pressure seen in congenital glaucoma.
Genomics England lists CHRDL1 on its corneal abnormalities panel for X-linked megalocornea. The inheritance pattern is X-linked, so males are more often affected, while carrier females may have no symptoms or milder findings.
Complications of CHRDL1-related megalocornea can include lens instability, cataract, secondary glaucoma and other anterior-segment problems. The exact pattern varies by individual.
Diagnosis
Diagnosis of CHRDL1-related disease is usually based on eye examination and genetic testing. Eye assessment may include corneal measurement, slit-lamp examination, refraction, eye-pressure measurement and imaging of the anterior chamber.
Genetic testing can confirm CHRDL1 involvement when the clinical pattern suggests X-linked megalocornea.
Research
Research has identified CHRDL1 variants in families with X-linked megalocornea and helped distinguish this condition from primary congenital glaucoma. Later studies have examined how CHRDL1 affects BMP signalling and eye development.
Broader research has also examined CHRDL1 expression in cancers, but those findings should not be overstated on a general gene page unless tied to specific, sourced clinical claims.
See Also
References
Discussion log
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