Genetic analysis of a pedigree with nail-patella syndrome and literature review

Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family. Methods Whole-exon sequencing （WES）was performed to detect the gene variant of the proband and the whole family. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. Using the key words of “nail-patella syndrome”and “prenatal diagnosis/antenatal diagnosis” as the searching words in both Chinese and English，relevant literatures were searched from PubMed， SinoMed， CNKI， Wanfang Data and Chongqing VIP databases up to December， 2022. Clinical data of NPS cases were collected and analyzed. Results The proband and aborted fetus carried a heterozygous variant c.736C>T （p.Arg246*） of the LMX1B. The same heterozygous variant was found in father rather than in mother. This variant has been proven to be pathogenic. Bioinformatic analysis predicted that the 246th amino acid was highly conserved