Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.

[zellweger syndrome]

Autosomal recessive Zellweger spectrum disorder (ZSD ), the main subgroup of the peroxisome biogenesis disorders (PBDs ), can be caused by mutations in any of the 13 PEX genes . Zellweger syndrome (ZS ) is the most common and severe phenotype in the heterogeneous ZSD . For the large number genes involved , it is difficult to make a precise genetic diagnosis by traditional methods at a time . A combination of enrichment of targeted genes and next -generation sequencing (NGS ) would result in both high efficiency and low cost for targeted sequencing of genes of interest .To identify potential mutations in a Chinese family associated with Zellweger syndrome , 1930 kb of all the targeted region of PEX genes were captured and sequenced using NGS . We also performed Sanger sequencing to validate the NGS results .Here , we reported a Chinese patient diagnosed as a severe classic type of PBD based on a clinical investigation . We then performed microarray-based NGS to detect the variants in PEX genes of the whole family . One reported heterozygosis mutation (c .782 _783 delAA ) was identified in the patient 's father and one novel heterozygosis missense mutation (c .475 G >C ) was found in the patient 's mother , the patient inherited both mutations .The results proved that the application of target sequence capture using chip and high -throughput NGS is a valuable tool for the molecular diagnosis of peroxisome biogenesis disorders . The accuracy , high -throughput and speed of the method make it suitable for clinical application .

Diseases
Validation

Diseases presenting "severe classic type" symptom

zellweger syndrome

You can validate or delete this automatically detected symptom