Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.
Hirschsprung Disease* ; Humans ; Intellectual Disability ; Korea ; Zinc Fingers

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup (p.S64Kfs*6). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.
Hirschsprung Disease* ; Humans ; Intellectual Disability ; Korea ; Zinc Fingers

GATA transcription factors are widespread eukaryotic regulators whose DNA-binding domain is a class IV zinc finger motif in the form CX(2)CX(17-20)CX(2)C followed by a basic region. In fungi, they act as transcriptional activators or repressors in several different processes, ranging from nitrogen source utilization to mating-type switching. Using an in-house bioinformatics portal system, we surveyed 50 fungal and 9 out-group genomes and identified 396 putative fungal GATA transcription factors. The proportion of GATA transcription factors within a genome varied among taxonomic lineages. Subsequent analyses of phylogenetic relationships among the fungal GATA transcription factors, as well as a study of their domain architecture and gene structure, demonstrated high degrees of conservation in type IVa and type IVb zinc finger motifs and the existence of distinctive clusters at least at the level of subphylum. The SFH1 subgroup with a 20-residue loop was newly identified, in addition to six well-defined subgroups in the subphylum Pezizomycotina. Furthermore, a novel GATA motif with a 21-residue loop (CX(2)CX(21)CX(2)C, designated 'zinc finger type IVc') was discovered within the phylum Basidiomycota. Our results suggest that fungal GATA factors might have undergone multiple distinct modes of evolution resulting in diversified cellular modulation in fungi.
Basidiomycota ; Computational Biology ; Fingers ; Fungi* ; GATA Transcription Factors* ; Genome ; Nitrogen ; Portal System ; Zinc Fingers

PURPOSE: The purpose of this study was to evaluate the adaptation of lithium disilicate crowns fabricated by CAD-CAM (computer aided design-computer aided manufacturing) and heat-press technique to compare two different measurement methods in assessing fit of the ceramic crowns: micro CT and cross-section technique. MATERIALS AND METHODS: A prepared typodont mandibular molar for ceramic crown was duplicated and ten dies were produced by milling the PMMA (polymethylmethacrylate) resin. Ten vinyl polysiloxane impressions were made and stone casts were produced. Five dies were used for IPS e.max Press crowns with heat-press technique. The other five dies were used for IPS e.max CAD crowns with CAD-CAM technique. Ten lithium disilicate crowns were cemented on the resin dies using zinc phosphate cement with finger pressure. The marginal and internal fits in central buccolingual plane were evaluated using a micro CT. Then the specimens were embedded and cross-sectioned and the marginal and internal fits were measured using scanning electronic microscope. The two measurement methods and two manufacturing methods were compared using Mann-Whitney U test (SPSS 22.0). RESULTS: The marginal and internal fit values using micro CT and cross-section technique were similar, showing no significant differences. There were no significant differences in adaptation between lithium disilicate crowns fabricated with CAD-CAM and heat-press technique. CONCLUSION: Both micro CT and cross-section technique were acceptable methods in the evaluation of marginal and internal fit of lithium disilicate crown. There was no difference in adaptation between lithium disilicate crowns fabricated with CAD-CAM and heat-press technique except occlusal fit.
Ceramics ; Computer-Aided Design ; Crowns* ; Fingers ; Lithium* ; Molar ; Polymethyl Methacrylate ; Siloxanes ; Zinc Phosphate Cement

Acrodermatitis enteropathica is a rare autosomal recessive disorder characterized by alopecia, acral and periorificial dermatitis and diarrhea. True acrodermatits enteropathica requires lifelong zinc replacement whereas transient acrodermatitis enteropathica, an acquired disorder with identical clinical features, requires only transient zinc replacement. Although premature and milk-fed infants are particularly vulnerable to development of both conditions, there have been some reports of acrodermatitis enteropathica in full-term breast-fed infants. We report a case of transient acrodermatitis enteropathica in a 5-month-old, full-term, breast-fed male baby with identical history in his 2 elder siblings. The patient presented with a 5-month history of diarrhea, hair loss and crusted erythematous patches on periorificial areas, and fingers and toes. His serum zinc levels were within lower normal limits in 2 consecutive tests. His mother was also checked for zinc levels, which was normal in serum but was markedly reduced in breast milk. Diarrhea and skin lesions disappeared promptly with oral zinc supplementation and did not recur after 11 weeks of treatment.
Acrodermatitis* ; Alopecia ; Dermatitis ; Diarrhea ; Fingers ; Hair ; Humans ; Infant ; Male ; Milk, Human ; Mothers ; Siblings* ; Skin ; Toes ; Zinc

The pleomorphic adenoma is the most common neoplasm involving both the major and minor salivary glands. It is a benign, slowgrowing tumor, but local recurrences can occur. The pleomorphic adenoma gene 1 (PLAG1), which is a novel zinc finger gene, is frequently activated by reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. This experimental study was preformed to observe the translocation patterns between PLAG1 gene and the three translocation partner genes. We also have analyzed the presence of PLAG1 transcripts by RT-PCR. CTNNB1/PLAG1 gene fusion was observed in three of nine pleomorphic adnomas. However, LIFR/PLAG1 and SII/PLAG1 gene fusions were not detectable. All of three gene fusions was not detectable in one Warthin's tumor and three inflammatory salivary gland tissues. PLAG1 transcripts were expressed in all inflammatory salivary gland tissues and tumors except for three pleomorphic adenomas. Of particular one pleomorphic adenoma showing CTNNB1/P AG1 gene fusion did not express PLAG1 transcipt. Our data indicate that gene fusion involving PLAG1 is a frequent event in pleomorphic adenoma, but correlation between gene fusion involving PLAG1 and PLAG1 transcription is not definite.
Adenoma, Pleomorphic* ; Gene Fusion ; Recurrence ; Salivary Glands* ; Salivary Glands, Minor ; Translocation, Genetic ; Zinc Fingers

PURPOSE: KLF6, a member of the KLF family, is a ubiquitous zinc finger tumor suppressor protein that is mutated in several human cancers. Our aim was to determine whether the expression pattern of KLF6 might be associated with gastric cancer development and, if so, to determine to which pathologic parameter it is linked. MATERIALS AND METHODS: For the construction of the gastric cancer tissue microarray, 85 paraffin-embedded tissues containing gastric cancer areas were cored 3 times and transferred to the recipient master block. The expression pattern of KLF6 was examined on tissue microarray slides by using immunohistochemistry and was compared with pathologic parameters, including histologic type, depth of invasion, lymph node metastasis, and peritoneal dissemination. RESULTS: The KLF6 protein was expressed on superficial and foveolar epithelial cells in the gastric mucosa. We found loss of KLF6 expression in 28 (32.9%) of the 85 gastric cancer tissues. There was a significant correlation between loss of KLF6 expression and lymph-node metastasis. However, other pathologic parameters, such as histologic type, depth of invasion, and peritoneal dissemination, were not statistically associated with loss of KLF6 expression. CONCLUSION: Our findings suggest that loss of KLF6 expression may contribute to abnormal regulation of gastrointestinal epithelial cell growth and differentiation and to the development and/or progression of Korean gastric cancer.
Apoptosis ; Epithelial Cells ; Gastric Mucosa ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Metastasis ; Stomach Neoplasms ; Zinc Fingers

PURPOSE: KLF6, a member of the KLF family, is a ubiquitous zinc finger tumor suppressor protein that is mutated in several human cancers. Our aim was to determine whether the expression pattern of KLF6 might be associated with gastric cancer development and, if so, to determine to which pathologic parameter it is linked. MATERIALS AND METHODS: For the construction of the gastric cancer tissue microarray, 85 paraffin-embedded tissues containing gastric cancer areas were cored 3 times and transferred to the recipient master block. The expression pattern of KLF6 was examined on tissue microarray slides by using immunohistochemistry and was compared with pathologic parameters, including histologic type, depth of invasion, lymph node metastasis, and peritoneal dissemination. RESULTS: The KLF6 protein was expressed on superficial and foveolar epithelial cells in the gastric mucosa. We found loss of KLF6 expression in 28 (32.9%) of the 85 gastric cancer tissues. There was a significant correlation between loss of KLF6 expression and lymph-node metastasis. However, other pathologic parameters, such as histologic type, depth of invasion, and peritoneal dissemination, were not statistically associated with loss of KLF6 expression. CONCLUSION: Our findings suggest that loss of KLF6 expression may contribute to abnormal regulation of gastrointestinal epithelial cell growth and differentiation and to the development and/or progression of Korean gastric cancer.
Apoptosis ; Epithelial Cells ; Gastric Mucosa ; Humans ; Immunohistochemistry ; Lymph Nodes ; Neoplasm Metastasis ; Stomach Neoplasms ; Zinc Fingers

The zinc finger protein ZBTB48 is a telomere-associated factor and renamed it as telomeric zinc finger-associated protein (TZAP). It binds preferentially to long telomeres competing with TRF1 and TRF2. However, its expression in cancers has not been performed. In the present study, we analyzed the prognosis of TZAP expression in 22 kinds of cancers by using TCGA data analysis. TZAP expression had a prognostic value in cervical, colon, and pancreatic cancers. When sorting the patients differently, it got the significance in bladder, breast, kidney, brain, and lung cancers. TZAP expression was associated with better prognosis in bladder, breast, cervical, lung, and pancreatic cancers. However, it showed poorer survival results in colon, kidney, and brain cancers. This result suggested that TZAP expression appears to be a possible prognosis marker in various cancers.
Brain ; Brain Neoplasms ; Breast ; Colon ; Humans ; Kidney ; Lung ; Lung Neoplasms ; Pancreatic Neoplasms ; Prognosis ; Statistics as Topic* ; Telomere ; Urinary Bladder ; Zinc ; Zinc Fingers

PURPOSE: Five members of the zinc finger of the cerebellum (ZIC) family—ZIC1, ZIC2, ZIC3, ZIC4, and ZIC5—have been shown to be involved in various carcinomas. Here, we aimed to explore the clinicopathologic and prognostic roles of ZIC family members in invasive breast cancer patients using immunohistochemical analysis, western blotting analysis, and real-time quantitative polymerase chain reaction (RT-qPCR). METHODS: A total of 241 female invasive breast cancer patients who underwent radical mastectomy between 2009 and 2011 were enrolled. ZIC proteins in 241 pairs of breast tumors and corresponding normal tissues were investigated using immunohistochemistry and the clinicopathologic roles of proteins were analyzed using Pearson's chi-square test. Kaplan-Meier curves and Cox regression analysis were also used to analyze the prognostic value of the ZIC proteins. In addition, 12 pairs of fresh-frozen breast tumors and matched normal tissues were used in the western blotting analysis and RT-qPCR. RESULTS: Only ZIC1 expression in normal tissues was obviously higher than that in tumors (p < 0.001). On multivariate analysis, ZIC1 expression (in overall survival analysis: hazard ratio [HR], 0.405, 95% confidence interval [CI], 0.233–0.702, p=0.001; in disease-free survival analysis: HR, 0.395, 95% CI, 0.234–0.669, p=0.001) was identified as a prognostic indicator of invasive breast cancer. CONCLUSION: ZIC1, but not the other proteins, was obviously decreased in breast tumors and associated with clinicopathologic factors. Thus, ZIC1 might be a novel indicator to predict the overall and disease-free survival of invasive breast cancer patients.
Blotting, Western ; Breast Neoplasms* ; Breast* ; Cerebellum* ; Disease-Free Survival ; Female ; Humans ; Immunohistochemistry ; Mastectomy, Radical ; Multivariate Analysis ; Pathology ; Polymerase Chain Reaction ; Prognosis ; Zinc Fingers* ; Zinc*