Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient.

ABSTRACT: Objective: This study aimed to investigate the clinical and molecular biology of a patient with a type of diabetes mellitus caused by a mutation in the POC1A (OMIM number: 614783) gene and explore its pathogenesis and related characteristics. Methods: The patient was interviewed about his medical history and subjected to relevant examinations. Blood DNA samples were collected from the patient and his family members (parents) for trio whole-exome sequencing. Whole-exome sequencing was performed using the IDT xGen Exome Research Panel v1.0 whole-exome capture chip and sequenced using an Illumina NovaSeq 6,000 series sequencer (PE150); the sequencing coverage of the target sequence was not less than 99%. After systematic analysis and screening of the cloud platform for ac

SUBMITTER: Li D 

PROVIDER: S-EPMC10086226 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature