Mutations in <i>TTC21B</i> cause different phenotypes in two childhood cases in China

Zhang, Hongwen; Su, Baige; Liu, Xiaoyu; Hu, Xin; Ding, Jie; Yao, Yong

doi:10.1111/nep.13008

Cited by 16 publications

(17 citation statements)

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“…Zhang et al, reported one pediatric case with mild cytolysis and one with hepatosplenomegaly, both associated with NPHP. Cong et al, described a case of biliary cirrhosis and one case of chronic chilestasis (5,12). An association of congenital hepatic fibrosis with NPHP or JATD has also been reported (13).…”

Section: Discussion and Review Of The Literaturementioning

confidence: 99%

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

et al. 2021

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Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene.Case Description: A 47-year-old patient started hemodialysis for chronic kidney disease (CKD) of unknown origin. She presented with early onset of hypertension, pre-eclampsia, myopia and cirrhosis. Renal biopsy showed mild interstitial fibrosis, tubular atrophy, and moderate arteriosclerosis while liver pathology demonstrates grade B biliary cirrhosis. Family history revealed several cases of early-onset severe hypertension and one case of end-stage renal disease (ESRD) needing kidney transplantation at twenty years of age. Clinical exome sequencing showed homozygosis for the pathogenic variant c.626C>T (p.Pro209Leu) in the TTC21B gene. The patient underwent combined liver-renal transplantation with an excellent renal and hepatic graft outcome.Conclusions:TTC21B gene mutations can lead heterogeneous to clinical manifestations and represent an underappreciated cause of ESRD. The paradigm in diagnosis of CKD of early onset and/or of unknown origin is changing and genetic counseling should be performed in all patients and families that meet those criteria. Renal or combined liver-renal transplantation represents the best option for patients suffering from those diseases in terms of prognosis and quality of life.

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Section: Discussion and Review Of The Literaturementioning

confidence: 99%

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

et al. 2021

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“…This suggests that the ratio of urinary α1-microglobulin to microalbumin could be used to measure LMWP in urine in patients with NPHP. However, albuminuria in the nephrotic range is also seen in a few patients with NPHP (26), and LMWP in urine is not always specific to NPHP. NS, IgA nephropathy, Henoch-Schonlein purpura nephritis, and lupus nephritis are the most common glomerular diseases that present during childhood.…”

Section: Resultsmentioning

confidence: 99%

The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria

Zhang

Wang

et al. 2018

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“…This protein is required for retrograde intraflagellar transport in the cilium. Mutations in the TTC21B gene have been pro-posed to be associated with various ciliary dysfunctions [36]. A study on massive parallel sequencing in patients with glomerular and cystic kidney diseases revealed that myopia was present in 5 of 23 patients (22%), two of whom had high myopia [37].…”

Section: Discussionmentioning

confidence: 99%

Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype

Chen

Wei

Chi

et al. 2019

CMM

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Purpose Pathologic myopia is a leading cause of visual impairment in East Asia. The aim of this study was to investigate the potential mutations in Chinese pathologic myopic patients and to analyze the correlations between genotype and clinical phenotype. Method One hundred and three patients with pathologic myopia and one hundred and nine unrelated healthy controls were recruited from Zhongshan Ophthalmic Center. Detailed clinical data, including ultra-widefield retinal images, measurements of best-corrected visual acuity, axial length, refractive error and ophthalmic examination results, were obtained. Blood samples were collected for high-throughput DNA targeted sequencing. Based on the screening results, phenotype-genotype correlations were analyzed. Results The study included 196 eyes of 103 patients (36 men and 67 women) with an average age of 52.19 (38.92 – 65.46) years, an average refractive error of -11.80 D (-16.38 – -7.22) and a mean axial length of 28.26 mm (25.79 – 30.73). The patients were subdivided into three groups: myopic chorioretinal atrophy (190 eyes of 101 patients), myopic choroidal neovascularization (17 eyes of 15 patients), and myopic traction retinopathy (71 eyes of 61 patients). Systematic analysis of variants in the 255 genes revealed six potential pathogenic mutations: PEX7, OCA2, LRP5 (rs545382, c.1647T>C), TSPAN12 (rs41623, c.765G>T), RDH5 (rs3138142, c.423C>T) and TTC21B (rs80225158, c.2385G>C). OCA2 mutations were primarily observed in patients with myopic traction maculopathy. Conclusion Genetic alterations contribute to various clinical characteristics in Chinese pathologic myopic patients. The study may provide new insights into the etiology of pathologic myopia and potential targets for therapeutic interventions.

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Mutations in TTC21B cause different phenotypes in two childhood cases in China

Abstract: Mutations in TTC21B cause a range of ciliopathy phenotypes in humans. We identified 3 novel TTC21B mutations in two Chinese paediatric cases that both presented end-stage renal disease and other different features. This is the first TTC21B mutations ever reported in China.

Cited by 16 publications

References 16 publications

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria

Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype

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