Original Article
Clinical and genetic analysis of a patient with rare nephronophthisis
Wang Dong, Tong Guixia, Dong Rui, Lyu Yuqiang, Gao Min, Ma Jian, Wan Ya, Pang Huanping, Gai Zhongtao, Liu Yi
Published 2020-07-10
Cite as Chin J Med Genet, 2020, 37(7): 743-746. DOI: 10.3760/cma.j.issn.1003-9406.2020.07.010
Abstract
ObjectiveTo explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP).
MethodsPeripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants.
ResultsThe patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8 days and then transferred to author’s hospital due to renal failure. Her urine occult bloods (3+ ) and urine protein (1+ ) were abnormal. Her blood urea nitrogen and creatinine showed a significant progressive increase. Renal ultrasound showed a mild enlargement in bilateral renal, increased echogenicity, loss of corticomedullary differentiation, and the presence of cysts in both kidneys. No familial genetic history was found in the family of patient and the child was clinically diagnosed with nephronophthisis. The proband was found to harbor compound heterozygous variants of the CEP290 gene, namely c. 2587-2A>T and c. 2251C>T, which were inherited from her mother and father, respectively. Based on the ACMG guidelines, both variants were predicted to be pathogenic.
ConclusionThe patient was diagnosed with NPHP type 6 due to variants of the CEP290 gene. Above finding has provided new evidence for the genotype-phenotype correlation of this disease.
Key words:
Nephronophthisis; CEP290 gene; Genetic variant
Contributor Information
Wang Dong
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Tong Guixia
Department of Nephrology and Rheumatology, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Dong Rui
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Lyu Yuqiang
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Gao Min
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Ma Jian
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Wan Ya
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Pang Huanping
Department of Ultrasonography, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Gai Zhongtao
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Liu Yi
Institute of Pediatric Research, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
