RESUMEN
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
Asunto(s)
Humanos , Masculino , Edad de Inicio , China , Pérdida Auditiva Sensorineural/genética , Mutación , Linaje , Receptores de Estrógenos/genéticaRESUMEN
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
Asunto(s)
Humanos , Pueblo Asiatico , Duplicación Cromosómica , Cromosomas Humanos Par 10 , Genética , Variaciones en el Número de Copia de ADN , Deformidades Congénitas del Pie , Genética , Pruebas Genéticas , Deformidades Congénitas de la Mano , Genética , Deformidades Congénitas de las Extremidades , Genética , LinajeRESUMEN
Objective To investigate gene mutations in a pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology.Methods Clinical data were collected from a pedigree with oculocutaneous albinism.Genomic DNA was extracted from peripheral blood cells of the proband and his parents.High-throughput sequencing technology was used for sequence analysis of coding regions in exons of 29 genes including TYR,OCA2,TYRP1 and SLC45A2 in the proband to find potential pathogenic gene mutations.Sanger sequencing was conducted to detect the corresponding genetic loci in the parents.Results Two heterozygous mutations were identified in the TYR gene of the proband,including a novel mutation c.534G ＞ C (p.Trp178Cys) and a known mutation c.1147G ＞ A (p.Asp383Asn).The detection of the TYR gene mutations in the parents of the proband showed that the c.534G ＞ C and c.1147G ＞ A mutations in the proband were inherited from his father and mother respectively.Conclusion A novel pathogenic mutation c.534G ＞ C in the TYR gene is identified in the pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology.