Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing

摘要

Background Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes. Methodology/Laboratory Examination DNA of the family was extracted and sequenced by whole exome sequencing. The results were validated with Sanger sequencing analyzed with Bioinformatics software. Results Sequencing result showed that the patient has carried a homozygous variant of c.277CT of the PEX11B gene. The patient's brother has carried a homozygous variant of c.277CT of the PEX11B gene and their variants of c.277CT of the PEX11B gene were inherited, respectively, from his mother and father. Discussion and Conclusion The homozygous variant of c.277CT of the PEX11B gene probably underlie the disease in this child and her brother.