The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3

Dostal, Ales; Němečková, Jitka; Gaillyova, Renate

doi:10.1016/j.jcms.2008.12.002

Cited by 21 publications

(19 citation statements)

References 24 publications

(22 reference statements)

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“…Mice that are null mutant for TSHZ3 exhibit congenital pelvi-ureteric junction obstruction with defective smooth muscle differentiation and absent peristalsis in the proximal ureter, suggesting a role in organ development [43], [44]. Recent reports have correlated the TSHZ genes to human diseases: reduced expression of TSHZ3 protein to Alzheimer disease [45] and deletion of the TSHZ1 gene, which is located at the 18q22.3 critical region, to 18q deletion syndrome [46]. Patients with the latter syndrome display a multiple-anomaly disorder associated with mental retardation, white matter anomalies in the brain, growth hormone deficiency, congenital aural atresia, orofacial cleft, and palate abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Rare and Frequent Promoter Methylation, Respectively, of TSHZ2 and 3 Genes That Are Both Downregulated in Expression in Breast and Prostate Cancers

et al. 2011

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BackgroundNeoplastic cells harbor both hypomethylated and hypermethylated regions of DNA. Whereas hypomethylation is found mainly in repeat sequences, regional hypermethylation has been linked to the transcriptional silencing of certain tumor suppressor genes. We attempted to search for candidate genes involved in breast/prostate carcinogenesis, using the criteria that they should be expressed in primary cultures of normal breast/prostate epithelial cells but are frequently downregulated in breast/prostate cancer cell lines and that their promoters are hypermethylated.Methodology/Principal FindingsWe identified several dozens of candidates among 194 homeobox and related genes using Systematic Multiplex RT-PCR and among 23,000 known genes and 23,000 other expressed sequences in the human genome by DNA microarray hybridization. An additional examination, by real-time qRT-PCR of clinical specimens of breast cancer, further narrowed the list of the candidates. Among them, the most frequently downregulated genes in tumors were NP_775756 and ZNF537, from the homeobox gene search and the genome-wide search, respectively. To our surprise, we later discovered that these genes belong to the same gene family, the 3-member Teashirt family, bearing the new names of TSHZ2 and TSHZ3. We subsequently determined the methylation status of their gene promoters. The TSHZ3 gene promoter was found to be methylated in all the breast/prostate cancer cell lines and some of the breast cancer clinical specimens analyzed. The TSHZ2 gene promoter, on the other hand, was unmethylated except for the MDA-MB-231 breast cancer cell line. The TSHZ1 gene was always expressed, and its promoter was unmethylated in all cases.Conclusions/SignificanceTSHZ2 and TSHZ3 genes turned out to be the most interesting candidates for novel tumor suppressor genes. Expression of both genes is downregulated. However, differential promoter methylation suggests the existence of distinctive mechanisms of transcriptional inactivation for these genes.

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Section: Discussionmentioning

confidence: 99%

Rare and Frequent Promoter Methylation, Respectively, of TSHZ2 and 3 Genes That Are Both Downregulated in Expression in Breast and Prostate Cancers

et al. 2011

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“…The syndrome constitutes one of the most frequent autosomal syndrome in man and the clinical phenotype is variable because the breakpoint varies greatly and it is generally characterized by mental retardation, development delay, short stature and a specific pattern of cranofacial dysmorphisms, hearing loss, neurologic abnormalities such hypoplasia, hands and feet anomalies [5,6]. …”

Section: Introductionmentioning

confidence: 99%

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

et al. 2013

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BackgroundVesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).Case reportThe patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.ConclusionsThis is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.

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“…In addition, the type of surgical repair and at what age it is performed also has a significant influence on the aesthetic (Carlino, 2008) and functional (Li et al, 2006) outcomes. The major challenge is not only understanding the genetics involved (Dostal et al, 2009), but also the design of the surgical procedure required in the uncommon types of clefts (Bütow, 2007).…”

Section: Introductionmentioning

confidence: 99%

A classification and construction of congenital lateral facial clefts

Bütow

Botha

2010

Journal of Cranio-Maxillofacial Surgery

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SUMMARY. Background: The repair of the lateral or transverse facial cleft is a surgical challenge on the account of the abnormal positioning and appearance of the cleft. Materials and methods: Over a twenty-seven year period, 22 lateral facial cleft cases were evaluated at a cleft lip (CL) and palate clinic and seven children underwent reconstruction of the lateral CL. Results: Twenty-two of 3187 (0.69%) cases presented with a lateral CL. Five of these 22 cases (23%) had a bilateral, eight (36%) had a right-sided and nine (41%) had a left-sided cleft. The evaluation of these cases resulted in a new classification (namely an extension of the Tessier 7 cleft) classification for the cutaneous and muscle involvement: a superior (T7.1), middle (T7.2), inferior (T7.3) and agenetic (T7.4) lateral CL. The altered surgical construction: an internal mucosal straight-line closure, a curved cutaneousemucosal red-lip/vermilion-lined flap for the lip commissure, muscle reconstruction at the modiolus and a positional cutaneous z-plasty for the rare lateral cutaneous cleft. Conclusion: The paper introduced a new classification for the lateral CL, as well as an altered surgical reconstructive technique for the most natural functioning of the lateral part of the face. Ó 2010 European Association for Cranio-Maxillo-Facial Surgery

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The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3

Cited by 21 publications

References 24 publications

Rare and Frequent Promoter Methylation, Respectively, of TSHZ2 and 3 Genes That Are Both Downregulated in Expression in Breast and Prostate Cancers

Rare and Frequent Promoter Methylation, Respectively, of TSHZ2 and 3 Genes That Are Both Downregulated in Expression in Breast and Prostate Cancers

Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

A classification and construction of congenital lateral facial clefts

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