Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening

Abstract

Hereditary nephropathy is a progressive fatal renal disease caused by genetic changes. in this study, genetic screening was used to reveal mutations in a family in Southern China, in which there are two patients with confirmed hereditary nephropathy, who are alive at the time of publication. imaging tests, including color doppler ultrasonography and magnetic resonance imaging (Mri), as well as pathological examinations, including hematoxylin-eosin staining, electron microscopy and immunohistochemistry were performed. Target sequencing of nephrosis 2 (NPHS2), wilms tumor 1 (WT1), phospholipase c ε 1 (PLCE1), actinin α 4 (ACTN4), angiotensin i converting enzyme (ACE), uromodulin (UMOD) and nephrocystin 1 (NPHP1) was also carried out. This study indicated that heterozygous genetic variants of NPHS2, WT1, ACTN4, PLCE1 and UMOD found in the patients were gene polymorphisms. a renal biopsy showed sclerosing glomerulonephritis, dilated tubules and lymphocyte/monocyte infiltration in the interstitium of the index patients. Genetic analysis showed vertical transmission of the disease-causing mutations, including a homozygous deletion in NPHP1 and a nonsense mutation in ACE found via Pcr-based single nucleotide polymorphism screening. Further network analysis identified direct and indirect co-location genes between NPHP1 and ACE. To conclude, familial adolescent nephronophthisis was diagnosed in two index patients in this study. it is recommended that comprehensive gene mutation screening is used in the diagnosis of complex hereditary diseases.

The relationship between vascular endothelial growth factor expression and the risk of childhood nephroblastoma: systematic review and meta-analysis

“…A total of 350 documents were initially retrieved using computer search databases PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang, and so on. After strict screening according to the inclusion and exclusion criteria, 12 documents with a total of 1,226 participants were finally included in the study (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24). The literature screening flow chart is shown in Figure 3.…”

“…Based on the inclusion and exclusion criteria, 12 studies were included in the meta-analysis (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24). The results of each study were tested for consistency (P=0.29) and a fixed effects model analysis was used (Table 1).…”

NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

“…There were 646 NPHP cases, 23 Joubert Syndrome cases, and nine Senior Loken cases. 125 NPHP cases, 13 Joubert syndrome cases, and all nine Senior Loken cases had ophthalmic abnormalities with a total of 147 cases overall with eye manifestations 9‐56 . Most common eye manifestations include retinal abnormalities ( n = 70) including retinitis pigmentosa and retinal dystrophies as well as nystagmus ( n = 19) and strabismus ( n = 14).…”

“…125 NPHP cases, 13 Joubert syndrome cases, and all nine Senior Loken cases had ophthalmic abnormalities with a total of 147 cases overall with eye manifestations. 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 Most common eye manifestations include retinal abnormalities ( n = 70) including retinitis pigmentosa and retinal dystrophies as well as nystagmus ( n = 19) and strabismus ( n = 14). Less commonly reported eye manifestations included palpebral fissure abnormalities ( n = 5), cataracts ( n = 3), epicanthal folds ( n = 2), telecanthus ( n = 1), and exophthalmos ( n = 1).…”