“
TL;DR
This case report describes the first clinically and genetically diagnosed familial LCAT deficiency (FLD) in Colombia, involving a compound heterozygous patient with LCAT mutations Arg123Pro and Arg268His.
The Application of Clinical Genetics · 7 authors, 6 centres
This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.
This case report describes the first clinically and genetically diagnosed familial LCAT deficiency (FLD) in Colombia, involving a compound heterozygous patient with LCAT mutations Arg123Pro and Arg268His.
This is a case report of a compound heterozygous patient diagnosed with familial LCAT deficiency (FLD) in Colombia. The patient harbored two rare LCAT missense mutations: p.Arg123Pro and p.Arg268His. In silico analysis predicted both mutations to be pathogenic and destabilizing, affecting the protein's structure and function. A key finding is the clinical heterogeneity; despite mutations associated with FLD, the patient had not developed renal failure, proteinuria, or splenomegaly at the time of the report.