Chromosome 11q13 deletion syndrome

Kim, Yu Seon; Kim, Gun Ha; Byeon, Jung Hye; Eun, Baik Lin

doi:10.3345/kjp.2016.59.11.s10

Cited by 13 publications

(13 citation statements)

References 11 publications

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“…In a cohort of 60 cases of non-small-cell lung cancer (NSCLC), LOH at chromosome 11q13.3 was found in around 20% of the samples [45]. Hemizygosity affecting FADD has also been reported in ocular coloboma [46], a manifestation of otodental syndrome or, as more recently re-named, the chromosome 11q13 deletion syndrome [47].…”

Section: Regulation Of Fadd Gene Expressionmentioning

confidence: 99%

FADD in Cancer: Mechanisms of Altered Expression and Function, and Clinical Implications

Marín-Rubio

Vela‐Martín

Fernández‐Piqueras

et al. 2019

Cancers

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FADD was initially described as an adaptor molecule for death receptor-mediated apoptosis, but subsequently it has been implicated in nonapoptotic cellular processes such as proliferation and cell cycle control. During the last decade, FADD has been shown to play a pivotal role in most of the signalosome complexes, such as the necroptosome and the inflammasome. Interestingly, various mechanisms involved in regulating FADD functions have been identified, essentially posttranslational modifications and secretion. All these aspects have been thoroughly addressed in previous reviews. However, FADD implication in cancer is complex, due to pleiotropic effects. It has been reported either as anti- or protumorigenic, depending on the cell type. Regulation of FADD expression in cancer is a complex issue since both overexpression and downregulation have been reported, but the mechanisms underlying such alterations have not been fully unveiled. Posttranslational modifications also constitute a relevant mechanism controlling FADD levels and functions in tumor cells. In this review, we aim to provide detailed, updated information on alterations leading to changes in FADD expression and function in cancer. The participation of FADD in various biological processes is recapitulated, with a mention of interesting novel functions recently proposed for FADD, such as regulation of gene expression and control of metabolic pathways. Finally, we gather all the available evidence regarding the clinical implications of FADD alterations in cancer, especially as it has been proposed as a potential biomarker with prognostic value.

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Section: Regulation Of Fadd Gene Expressionmentioning

confidence: 99%

FADD in Cancer: Mechanisms of Altered Expression and Function, and Clinical Implications

Marín-Rubio

Vela‐Martín

Fernández‐Piqueras

et al. 2019

Cancers

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“…The first case of the otodental syndrome was described in Hungary in a mother and son by Denes and Csiba in 1969 [9]. After that a British Kindred [8, 18], a girl of Irish extraction [7] and her daughter [19], a family from Brazil [13, 20], a Chinese boy [2], a family of Polish extraction [1], an Austrian family [12], a kindred of Italian extraction followed through six generations [4, 5, 21], a Belgian family [22], an American girl [23], a Korean girl [14] and a Chinese girl [3] has been described in the literature so far. In the case of the otodental syndrome, the dental phenotype is per se diagnostic.…”

Section: Discussionmentioning

confidence: 99%

“…Odontoma was reported by Beck-Mannagetta et al [12] and Liu et al [3] in the posterior maxilla and mandible. Pieces of literature had reported dysmorphic facial features including a long face, full cheek, anteverted nostrils, a long philtrum, and a cleft lip in some patients with otodental syndrome [1, 13, 14]. Bilateral sensorineural hearing deficiency to about 65 dB is found at all frequencies but is more pronounced at about 1000 Hz in these patients.…”

Section: Introductionmentioning

confidence: 99%

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report

Zeng

et al. 2019

BMC Oral Health

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Background Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome. Case presentation A 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient’s mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother. Conclusions This case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome. Electronic supplementary material The online version of this article (10.1186/s12903-019-0860-z) contains supplementary material, which is available to authorized users.

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“…Es una enfermedad hereditaria y de tipo autosómica dominante, caracterizada por alteraciones en la morfología dental, así como pérdida auditiva neurosensorial de alta frecuencia; asociada también a anomalías oculares. [1][2][3][4][5][6][7] Las manifestaciones dentales del síndrome consisten en molares grandes en forma de globo (globodoncia); los cuales por su anatomía irregular tienen gran predisposición a caries dental. Además, se identifican premolares ausentes o microdónticos y retraso en la erupción de los dientes afectados.…”

Section: Introductionunclassified

Síndrome otodental y su manejo en la estomatología pediátrica. Una revisión narrativa.

Collado-Gabino

Magaña-Barrios

2021

CyRS

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Introducción. El síndrome otodental se caracteriza por pérdida auditiva Neurosensorial y la presencia de dientes bulbosos agrandados (globodoncia) queafectan a la dentición primaria y permanente. Objetivo. Presentar el estado del arte del conocimiento sobre las características clínicas del síndrome otodental en el niño y en el adolescente. Desarrollo. Se encontró como cuadro clínico principal globodoncia, pérdida auditiva de baja frecuencia, con aparición variable durante la vida del paciente; así como el retardo en la erupción en la dentición temporal y permanente. Además, se observa que estas manifestaciones pueden presentarse en uno o en varios integrantes de la familia y estar asociadas a otras manifestaciones faciales y oculares. Conclusión. Existe poca información reciente sobre la frecuencia de esta condición en el mundo, tomando en cuenta que la mayoría de los casos se limita a la ascendencia europea u oriental, coincidiendo en el cuadro clínico característico. Por lo anterior, se sugiere considerar este diagnóstico clínico cuando se detecten algunas alteraciones dentales raras como la globodoncia, para un tratamiento integral sistémico incluyendo el de estomatología pediátrica.

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Chromosome 11q13 deletion syndrome

Cited by 13 publications

References 11 publications

FADD in Cancer: Mechanisms of Altered Expression and Function, and Clinical Implications

FADD in Cancer: Mechanisms of Altered Expression and Function, and Clinical Implications

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report

Síndrome otodental y su manejo en la estomatología pediátrica. Una revisión narrativa.

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