Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome

Lin, Liang-In; Chu, Chunfang; Li, Shenghui; Lü, Dan; Zheng, Ping; Sheng, Jie; Luo, Liqun; Wu, Xia; Zhang, Yudi; Yin, Chenghong; Duan, Aihong

doi:10.1016/j.fertnstert.2021.06.033

Cited by 17 publications

(10 citation statements)

References 48 publications

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“…Furthermore, 32 studies were excluded because they were review articles or animal studies. Eventually, a total of 41 studies were included in this meta‐analysis 18–57 . According to the PRISMA guidelines, an overall data collection process is presented in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…The results of a total of 20 studies were evaluated in this category. 18,[20][21][22]24,[26][27][28][32][33][34][35]37,40,43,52,[54][55][56][57] Left RA was found in 51.56% (95% CI: 44.79%-58.31%) out of a total of 1182 subjects and right RA had a prevalence of 43.19% (95% CI: 36.65%-49.84%) in 1182 patients. More information is provided in Table 5.…”

Section: Occurrence Of the Ra Sidementioning

confidence: 99%

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Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

et al. 2023

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Our objective was to analyse the newest relevant data on worldwide prevalence and associated symptoms of renal agenesis (RA). This meta‐analysis builds on previous systematic reviews to include bilateral RA, its symptoms and data on gender, unilateral RA and anomaly location prevalence. Review of available data included records in English and other languages from PubMed, Embase, ScienceDirect, Web of Science, SciELO, BIOSIS, Current Content Connect Korean Journal Database and Russian Citation Index and Google. A total of 15 641 184 patients were analysed in relation to the prevalence of RA. The pooled prevalence of RA was 0.03% (95% CI: 0.03%–0.04%). Based on 500 subjects, a pooled prevalence of 47.96% (95% CI: 31.55%–64.58%) for unilateral and 52.04% (95% CI: 35.42%–68.45%) for bilateral RA has been set. Our study presents the newest generalized findings on bilateral RA. There appears to be universal disease and symptom prevalence with minor differences between world regions, although quality of future observational research should include genomic data. This will provide even further insight into the prognosis of various renal anomalies and their etiologies.

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Section: Resultsmentioning

confidence: 99%

Section: Occurrence Of the Ra Sidementioning

confidence: 99%

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

et al. 2023

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“…Therefore, the study findings suggest that attention should be paid to whether patients with type II MRKH syndrome, especially those with urinary system abnormalities, carry genetic variants related to CAKUT. A previous study by our group has also shown that sequence variants related to CAKUT could be associated with another complex reproductive tract malformation, which is related to the Herlyn–Werner–Wunderlich syndrome [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…The findings suggest that Fc-M-2 and Fc-M-7 are related to digenic inheritance. KMT2D , LIFR , and CLIP1 are associated with CAKUT, which also indicates that perturbations of renal development-related genes may affect the normal development of reproductive tracts, including the uterus and vagina [ 17 , 31 ].…”

Section: Discussionmentioning

confidence: 99%

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Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Chu

et al. 2022

Hum Genomics

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Ten patients with MRKH syndrome were recruited at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Whole-exome sequencing was performed for each patient. Sanger sequencing confirmed the potential causative genetic variants in each patient. In silico analysis and American College of Medical Genetics and Genomics (ACMG) guidelines helped to classify the pathogenicity of each variant. The Robetta online protein structure prediction tool determined whether the variants affected protein structures. Eleven variants were identified in 90% (9/10) of the patients and were considered a molecular genetic diagnosis of MRKH syndrome. These 11 variants were related to nine genes: TBC1D1, KMT2D, HOXD3, DLG5, GLI3, HIRA, GATA3, LIFR, and CLIP1. Sequence variants of TBC1D1 were found in two unrelated patients. All variants were heterozygous. These changes included one frameshift variant, one stop-codon variant, and nine missense variants. All identified variants were absent or rare in gnomAD East Asian populations. Two of the 11 variants (18.2%) were classified as pathogenic according to the ACMG guidelines, and the remaining nine (81.8%) were classified as variants of uncertain significance. Robetta online protein structure prediction analysis suggested that missense variants in TBC1D1 (p.E357Q), HOXD3 (p.P192R), and GLI3 (p.L299V) proteins caused significant structural changes compared to those in wild-type proteins, which in turn may lead to changes in protein function. This study identified many novel genes, especially TBC1D1, related to the pathogenesis of MRKH syndrome. The identification of these variants provides new insights into the etiology of MRKH syndrome and a new molecular genetic reference for the development of the reproductive tract.

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Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases

Liu¹,

Dou

et al. 2023

Arch Gynecol Obstet

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Renal agenesis-related genes are associated with Herlyn-Werner-Wunderlich syndrome

Cited by 17 publications

References 48 publications

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

Renal agenesis: A meta‐analysis of its prevalence and clinical characteristics based on 15 641 184 patients

Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases

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