A Novel WT1 Gene Mutation Associated with Wilms' Tumor and Congenital Male Genitourinary Malformation

Sakamoto, Jun; Takata, Ayako; Fukuzawa, Ryuji; Kikuchi, Hiroe; Shimada, Masahiko; Kanamori, Yutaka; Hashizume, Kohei; Hata, Jun Ichi

doi:10.1203/00006450-200109000-00008

Cited by 11 publications

(10 citation statements)

References 46 publications

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“…There were only three patients with characterized splice site mutations and all developed unilateral tumors. In all three cases no normal transcript was seen in the tumors [Royer-Pokora and Schumacher, in press;Schneider et al, 1993;Sakamoto et al, 2001].…”

Section: Genotype/phenotype Correlation With Lateralitymentioning

confidence: 99%

Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development

Royer‐Pokora

Beier

Henzler

et al. 2004

American J of Med Genetics Pt A

142

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We report here 24 new Wilms tumor (WT) patients with germline WT1 alterations and a synopsis of our own previously described and literature cases in whom age of tumor-onset, gender, and laterality were known. This combined database contains 282 patients, 117 patients with and 165 without WT1 germline alterations. Using this information we have determined the median age of tumor-onset for patients with (12.5 months) and without WT1 gene alterations (36 months). The earliest onset was in patients with truncation (12 mo, 66 patients), followed by missense mutations (18 mo, 30 patients) and deletions (22 mo, 21 patients). Patients with the two most frequent nonsense mutations R362X and R390X and the Denys-Drash syndrome (DDS) hot spot mutation R394W/Q/L had a very early onset (9, 12, and 18 mo, respectively). The highest number of bilateral tumors was observed in the group of truncation mutations, with a higher percentage of bilateral tumors when truncations occurred in the 5' half of the WT1 gene. In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal-predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation.

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Section: Genotype/phenotype Correlation With Lateralitymentioning

confidence: 99%

Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development

Royer‐Pokora

Beier

Henzler

et al. 2004

American J of Med Genetics Pt A

142

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show abstract

“…1,5,6 For example, alterations of the alternative splicing of the WT1, BRCA1, and ATP7A genes have been reported to cause Wilms' tumor, [7][8][9] breast cancer, 10 and occipital horn syndrome, 11 respectively. As alternative splicing occurs at a high frequency in the nervous system, 3,12 it is natural that aberrant alternative splicing is implicated as a cause of some human diseases associated with the nervous system: the inherited dementia FTDP-17, 13 schizophrenia, [14][15][16] and Alzheimer's disease, 17 among others.…”

Section: Introductionmentioning

confidence: 99%

Alternative Splice Variants Encoding Unstable Protein Domains Exist in the Human Brain

Homma

Kikuno

Nagase

et al. 2004

Journal of Molecular Biology

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“…A heterozygous point mutation in intron 7 named +2, T → G was reported [23]. R362Q and K386R missense mutations among Chinese population [22].…”

Section: Wt1 (Wilms' Tumor 1) 11p13mentioning

confidence: 99%

“…Twenty-three (23) genes, representing 35% of the total genes collected, were linked with syndromic infertility ( Table 1). The most common syndromes associated with infertility identified by this study are polycystic ovary syndrome (PCOS), Swyer syndrome, and Sertoli cell-only syndrome, respectively.…”

Section: Genes Predisposing To Syndromic Infertilitymentioning

confidence: 99%

Genes predisposing to syndromic and nonsyndromic infertility: a narrative review

Yahaya

Liman

Abdullahi

et al. 2020

Egypt J Med Hum Genet

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Background Advanced biological techniques have helped produce more insightful findings on the genetic etiology of infertility that may lead to better management of the condition. This review provides an update on genes predisposing to syndromic and nonsyndromic infertility. Main body The review identified 65 genes linked with infertility and infertility-related disorders. These genes regulate fertility. However, mutational loss of the functions of the genes predisposes to infertility. Twenty-three (23) genes representing 35% were linked with syndromic infertility, while 42 genes (65%) cause nonsyndromic infertility. Of the 42 nonsyndromic genes, 26 predispose to spermatogenic failure and sperm morphological abnormalities, 11 cause ovarian failures, and 5 cause sex reversal and puberty delay. Overall, 31 genes (48%) predispose to male infertility, 15 genes (23%) cause female infertility, and 19 genes (29%) predispose to both. The common feature of male infertility was spermatogenic failure and sperm morphology abnormalities, while ovarian failure has been the most frequently reported among infertile females. The mechanisms leading to these pathologies are gene-specific, which, if targeted in the affected, may lead to improved treatment. Conclusions Mutational loss of the functions of some genes involved in the development and maintenance of fertility may predispose to syndromic or nonsyndromic infertility via gene-specific mechanisms. A treatment procedure that targets the affected gene(s) in individuals expressing infertility may lead to improved treatment.

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A Novel WT1 Gene Mutation Associated with Wilms' Tumor and Congenital Male Genitourinary Malformation

Cited by 11 publications

References 46 publications

Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development

Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development

Alternative Splice Variants Encoding Unstable Protein Domains Exist in the Human Brain

Genes predisposing to syndromic and nonsyndromic infertility: a narrative review

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