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Treacher collins

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https://www.readbyqxmd.com/read/28973381/treacher-collins-syndrome-mutations-in-saccharomyces-cerevisiae-destabilizes-rna-polymerase-i-and-iii-complex-integrity
#1
Nancy Walker-Kopp, Ashleigh J Jackobel, Gianno N Pannafino, Paola A Morocho, Xia Xu, Bruce A Knutson
Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C, and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Here we elucidate the molecular basis of TCS mutations in S...
August 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28947685/-growth-of-maxillo-facial-region-and-related-anomalies
#2
Naoto Suda
Since maxillo-facial region is quite complex, growth and developmental defect cause various anomalies. It is known that 70% of whole genetic disorders have any symptom or abnormal condition in maxilla-facial region. Cleft lip and/or palate is the most popular congenital anomaly and is seen in 0.2% of general population. Cases with Treacher Collins syndrome and Robin sequence are with respiratory problem due to the small mandible or mandibular retrusion. Achondroplasia is a genetic disease with short-limbed dwarfism due to abnormal proliferation or differentiation of chondrocytes...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#3
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#4
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo there is a recurrence risk due to parental germ line mosaicism, depending on the gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833556/over-expression-of-p53-explains-isotretinoin-s-teratogenicity
#5
Bodo C Melnik
The precise molecular basis of retinoid embryopathy is yet unknown. This hypothesis predicts that isotretinoin (13-cis retinoic acid), the prodrug of all-trans retinoic acid (ATRA), exaggerates neural crest cell (NCC) apoptosis via upregulation of the pro-apoptotic transcription factor p53, the guardian of the genome. Increased p53 signaling is associated with Treacher Collins-, CHARGE-, and fetal alcohol syndrome, which exhibit dysmorphic craniofacial features resembling retinoid embryopathy. In addition, developmental studies of NCC homeostasis in the zebrafish support the pivotal role of p53...
August 20, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28820843/cephalometric-predictors-of-clinical-severity-in-treacher-collins-syndrome
#6
Elcin Esenlik, Natalie M Plana, Barry H Grayson, Roberto L Flores
BACKGROUND: The aim of this study is to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins Syndrome (TCS). METHODS: A retrospective single-institutional review of patients with TCS was conducted. Pre-operative cephalograms and computed tomography scans (n=30) were evaluated. 50 cephalometric measurements were compared to age-specific normative data using ANOVA. These cephalometric measurements and the patient's Pruzansky classification were correlated to clinical severity using Spearman analysis...
August 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#7
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28468148/a-morphological-classification-scheme-for-the-mandibular-hypoplasia-in-treacher-collins-syndrome
#8
Cassandra A Ligh, Jordan Swanson, Jason W Yu, Fares Samra, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle)...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28437266/gelfoam-interposition-minimizes-risk-of-fistula-and-postoperative-bleeding-in-modified-furlow-palatoplasty
#9
Jing Li, Patrick A Gerety, James Johnston, Jesse A Taylor
Failure to accomplish a tension-free, watertight closure predisposes the palatoplasty patient to fistula formation. Perioperative bleeding also places the patient at risk for adverse airway events (AAE). This study introduces the incorporation of a hemostatic gelatin sponge (Gelfoam) into layered palatoplasty to minimize adverse postoperative bleeding and fistula formation. A retrospective chart review was performed to identify subjects who underwent Furlow palatoplasty with insertion of Gelfoam from 2010 to 2015...
April 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#10
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
May 2017: Hearing Research
https://www.readbyqxmd.com/read/28186364/rare-syndromes-of-the-head-and-face-mandibulofacial-and-acrofacial-dysostoses
#11
REVIEW
Karla Terrazas, Jill Dixon, Paul A Trainor, Michael J Dixon
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies...
May 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28137637/combining-virtual-surgical-planning-intraoperative-navigation-and-3-dimensional-printing-in-prosthetic-based-bilateral-microtia-reconstruction
#12
Jason M Weissler, Michael Sosin, Amir H Dorafshar, Juan R Garcia
Reconstructing auricular deformities for bilateral microtia is a demanding challenge especially after failed autologous reconstruction. This case report presents a novel application of virtual surgical planning, computer-assisted design, and intraoperative surgical navigation to preplan and execute placement of custom-tailored silicone auricular prostheses and titanium osseointegrated implants for a bone-anchored hearing aid system in a patient with Treacher Collins syndrome in whom autologous reconstruction had previously failed...
July 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28134638/a-morphological-classification-scheme-for-the-mandibular-hypoplasia-in-treacher-collins-syndrome
#13
Cassandra A Ligh, Jordan Swanson, Jason W Yu, Fares Samra, Scott P Bartlett, Jesse A Taylor
BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle)...
January 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28094032/the-airway-approach-to-a-neonate-with-treacher-collins-syndrome-case-report
#14
R Marques-Pires, H Trindade
Neonates and small infants with syndromes characterized by the presence of craniofacial abnormalities may represent great challenges regarding the management of the airway. We describe the case of a 9-day-old neonate with Treacher Collins syndrome, in which a laryngeal mask was essential to improve the airway obstruction, ventilate the patient and serve as an airway conduit for a fiberoptic intubation. By presenting this case, we intend to show that in neonates with Treacher Collins syndrome, in whom difficulties ventilation and intubation are expected, a thoughtful airway management planning is mandatory...
April 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/28053912/management-of-obstructive-sleep-apnea-in-a-treacher-collins-syndrome-patient-using-distraction-osteogenesis-of-the-mandible
#15
İbrahim Damlar, Ahmet Altan, Berk Turgay, Soydan Kiliç
In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of her Treacher Collins syndrome. The patient underwent mandibular distraction osteogenesis under general anesthesia. The mandible was expanded by 15 mm using internal bilateral distractors...
December 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#16
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28045828/bilateral-malar-reconstruction-using-patient-specific-polyether-ether-ketone-implants-in-treacher-collins-syndrome-patients-with-absent-zygomas
#17
David C G Sainsbury, Alan George, Christopher R Forrest, John H Phillips
The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#18
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27777025/treacher-collins-syndrome-new-insights-from-animal-models
#19
William Ka Fai Tse
Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al...
December 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27720275/combined-soft-and-skeletal-tissue-modelling-of-normal-and%C3%A2-dysmorphic-midface-postnatal-development
#20
Amel Ibrahim, Michael Suttie, Neil W Bulstrode, Jonathan A Britto, David Dunaway, Peter Hammond, Patrizia Ferretti
BACKGROUND: Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. MATERIALS AND METHODS: Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling...
November 2016: Journal of Cranio-maxillo-facial Surgery
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