{"id":2117,"date":"2025-09-26T15:30:57","date_gmt":"2025-09-26T15:30:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2117"},"modified":"2026-02-22T00:22:49","modified_gmt":"2026-02-22T00:22:49","slug":"gapo-syndrome-a-comprehensive-examination-and-review-of-105-clinical-cases","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/09\/26\/gapo-syndrome-a-comprehensive-examination-and-review-of-105-clinical-cases\/","title":{"rendered":"GAPO syndrome: a comprehensive examination and review of 105 clinical cases (Contributed by Dr. Clarissa Modafferi)"},"content":{"rendered":"

GAPO syndrome is a rare inherited condition that affects growth, hair, teeth, and vision. It is an autosomal recessive syndrome due to variants, of which both parents are healthy carriers, in ANTXR1 gene, encoding Anthrax Toxin Receptor 1. This gene is crucial for the creation of actin, protein important for regulating the shape and interactions between cells. Our team reviewed 104 cases, including one new patient recently identified, to provide the most exhaustive clinical description to date. GAPO syndrome impacts multiple organs, often causing progressive connective tissue changes that worsen with age. This work identifies patterns that could be helpful to doctors to recognize the syndrome earlier, guide patient care, and inform families. By understanding the genetic cause, we also open the door for future research into treatments that may slow or prevent the tissue damage seen in GAPO syndrome. (https:\/\/jmg.bmj.com\/content\/early\/2025\/09\/17\/jmg-2025-110832<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

GAPO syndrome is a rare inherited condition that affects growth, hair, teeth, and vision. It is an autosomal recessive syndrome due to variants, of which both parents are healthy carriers, in ANTXR1 gene, encoding Anthrax Toxin Receptor 1. This gene is crucial for the creation of actin, protein important for regulating the shape and interactions […]<\/p>\n

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It is an autosomal recessive syndrome due to variants, of which both parents are healthy carriers, in ANTXR1 gene, encoding Anthrax Toxin Receptor 1. 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