Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Plaza-Benhumea, L.; Valdes-Miranda, J.M.; Toral-López, Jaime; Pérez-Cabrera, Adrián; Cuevas-Covarrubias, Sergio A.

doi:10.1111/bjd.13177

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…Previous studies also revealed that ZFPM2 could cooperate with GATA factors and contribute to the occurrence of ovarian tumors, neuroblastoma, testicular carcinoma, germ cell tumors, Wilms' tumor, gliomas, glioblastoma, lung cancer, breast cancer and osteosarcoma (22)(23)(24)(25)(26)(27)(28)(29)(30)(31). The chromosome 8q23 region is a high susceptibility locus for several types of cancer and genome-wide association studies (GWAS) have identified a number of cancer-associated single nucleotide polymorphisms that are adjacent to the ZFPM2-AS1 and ZFPM2 gene in this region (32)(33)(34)(35)(36)(37).…”

Section: Introductionmentioning

confidence: 99%

Bioinformatics analyses and biological function of lncRNA ZFPM2‑AS1 and ZFPM2 gene in hepatocellular carcinoma

Luo

Xiao-jun

et al. 2020

Oncol Lett

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Hepatocellular carcinoma (HCC) remains one of the most lethal malignant tumors worldwide; however, the etiology of HCC still remains poorly understood. In the present study, cancer-omics databases, including The Cancer Genome Atlas, GTEx and Gene Expression Omnibus, were systematically analyzed in order to investigate the role of the long non-coding RNA (lncRNA) zinc finger protein, FOG family member 2-antisense 1 (ZFPM2-AS1) and the zinc finger protein, FOG family member 2 (ZFPM2) gene in the occurrence and progression of HCC. It was identified that the expression levels of lncRNA ZFPM2-AS1 were significantly increased in HCC tissues, whereas expression levels of the ZFPM2 gene were significantly decreased in HCC tissues compared with normal liver tissues. Higher expression levels of ZFPM2-AS1 were significantly associated with a less favorable prognosis of HCC, whereas higher expression levels of the ZFPM2 gene were associated with a more favorable prognosis of HCC. Genetic alterations in the ZFPM2 gene may contribute to a worse prognosis of HCC. Validation of the GSE14520 dataset also demon stared that ZFPM2 gene expression levels were significantly decreased in HCC tissues (P<0.001). The receiver operating characteristic (ROC) analysis of the ZFPM2 gene indicated high accuracy of this gene in distinguishing between HCC tissues and non-tumor tissues. The areas under the ROC curves were >0.8. Using integrated strategies, the present study demonstrated that lncRNA ZFPM2-AS1 and the ZFPM2 gene may contribute to the occurrence and prognosis of HCC. These findings may provide a novel understanding of the molecular mechanisms underlying the occurrence and prognosis of HCC.

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Section: Introductionmentioning

confidence: 99%

Bioinformatics analyses and biological function of lncRNA ZFPM2‑AS1 and ZFPM2 gene in hepatocellular carcinoma

Luo

Xiao-jun

et al. 2020

Oncol Lett

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“…Studies performing a genotype-phenotype correlation for LGS patients are still limited. Maas et al [2015], from a collaborative international study, reported 14 cases of LGS with deletions encompassing the TRPS1 gene, five of which had been previously reported in the literature, and we could access their molecular results [Carvalho et al, 2011;Chen et al, 2013;Schinzel et al, 2013;Plaza-Benhumea et al, 2014]. Five other cases were also molecularly described in previous reports and were included in our genotype-phenotype analysis [Li et al, 2015;Selenti et al, 2015;Hazan et al, 2016;Ruiz-Botero and Pachajoa, 2016;Konala et al, 2017] (Table 1).…”

Section: Discussionmentioning

confidence: 92%

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Favilla

Burssed

Coelho

et al. 2022

Cytogenet Genome Res

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Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of the TRPS1, RAD21, and EXT1 genes’ haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for the CSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the genotype-phenotype characterization for LGS patients.

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“…Moreover, IH reportedly occurs in families, possibly due to its genetic mutation etiology 4 . Although cases of TRPS type II associated with IH or vaginal atresia have been reported, 5 no case of TRPS type I has been published to date. The relationship between IH and TRPS type I is currently unknown.…”

Section: Figurementioning

confidence: 99%

Trichorhinophalangeal syndrome type I associated with imperforate hymen

Minemura,

Sugitate,

Shimizu

et al. 2023

Pediatrics International

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Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Cited by 5 publications

References 9 publications

Bioinformatics analyses and biological function of lncRNA ZFPM2‑AS1 and ZFPM2 gene in hepatocellular carcinoma

Bioinformatics analyses and biological function of lncRNA ZFPM2‑AS1 and ZFPM2 gene in hepatocellular carcinoma

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Trichorhinophalangeal syndrome type I associated with imperforate hymen

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