A de novo LMX1B gene variation in a pedigree with nail-patella syndrome
LI Li
HUANG Jia
ZHAI Jian-jin
GUO Jie
Abstract：Objective To analyze the genetic variation of a family with nail-patella syndrome(NPS),and to identify its possible pathogenic causes.Methods The clinical data of the patients were collected,the peripheral blood DNA of the proband and his family members were extracted,the whole exon sequencing(WES)of the proband was performed,and the disease-related pathogenic genes were detected.Other members of the family were verified by Sanger sequencing.Results The patient has multiple underdeveloped fingernails on both hands,with disappearance of fingerprints on the interphalangeal joints between the index and middle fingers,abnormal gait,and weak knee mobility.The WES sequencing Results showed a heterozygous variation of c.306C＞A(p.Tyr102∗)in exon 2 of the patient's LIM homeobox transcription factor 1 beta(LMX1B)gene.The son of the patient had the same mutation at the same position of the Results of first-generation sequencing The variation can be identified as a pathogenic variation(PVS1+PM2+PP3)according to the Standards and Guidelines of ACMG.Conclusion The c.306C＞A mutation of LMX1B gene may be the cause of nail-patellar syndrome in this pedigree.
Keywords：Nail-patella syndromeLMX1B geneNonsense mutationWhole-exon sequencingHereditary disease
Publication Date：2025-06-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 648-652 )