1.Department of Endocrinology,the Second Hospital of Jiaxing, Jiaxing 314000, China; 2.Department of Endocrinology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou 325027, China
Abstract：Objective: To investigate the clinical phenotype and genotype of Johanson-Blizzard syndrome (JBS) with diabetes mellitus as the main manifestation. Methods: The clinical data, laboratory examination and imaging examination of JBS patients were collected. The genomic DNA of their family members was extracted and verified by whole-exome sequencing and then Sanger sequencing. Results: The main manifestation of the patient was diabetes mellitus, with enlarged eye space, flat nasal root, nasal alae aplasia, and low hairline.Sequencing result showed that the patient carried a homozygous missense variant of c.4463T>C (p. Ile1488Thr) of the UBR1 gene, verified as a novel variation, and analysis showed it was the pathogenic site. Conclusion: The finding that the patient carries on a new UBR1 gene c.4463T>C has improved the understanding of the clinical phenotype and the genetic spectrum of JBS.
