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Abstract Background Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, the pathogenic variants of about 8–11% cases remain unknown. The object of this study is to describe the molecular basis of 14 clinically diagnosed TCS patients from four families using Whole-exome sequencing (WES) followed by Sanger sequencing confirmation, and to analyze the effect of bone conduction hearing rehabilitation in TCS patients with bilateral conductive hearing loss. Results Four previously unreported heterozygous pathogenic variants (c.3047-2A > G, c.2478 + 5G > A, c.489delC, c.648delC) were identified in the TCOF1 gene, one in each of the four families. Sanger sequencing in family members confirmed co-segregation of the identified TCOF1 variants with the phenotype. The mean pure-tone threshold improvements measured 3 months after hearing intervention were 28.8 dB for soft-band BAHA, 36.6 ± 2.0 dB for Ponto implantation, and 27.5 dB SPL for Bonebridge implantation. The mean speech discrimination improvements measured 3 months after hearing intervention in a sound field with a presentation level of 65 dB SPL were 44%, 51.25 ± 5.06, and 58%, respectively. All six patients undergoing hearing rehabilitation in this study got a satisfied hearing improvement. Conclusions WES combined with Sanger sequencing enables the molecular diagnosis of TCS and may detect other unknown causative genes. Bone conduction hearing rehabilitation may be an optimal option for TCS patients with bilateral conductive hearing loss.

Treacher Collins syndrome (TCS) is a rare genetic disorder. The clinical presentation of this syndrome can vary among members of the same family. The commonly associated genes with TCS are mostly inherited as autosomal dominant; however, rare autosomal recessive inheritance has been reported. We present the case of a one-day-old term male baby diagnosed with TCS wherein the genetic workup revealed a novel pathogenic variant on exon 17, which has not been reported in the literature previously. This is the first case report regarding a novel pathogenic variant within exon 17 of the Treacle Ribosome Biogenesis Factor 1 ( TCOF1 ) gene causing Treacher Collins syndrome., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Tandon et al.)

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation

Treacher Collins syndrome causes anodontia and hypodontia intraorally, in addition to other symptoms. Partial or total anodontia results in loss of function such as chewing, and affects esthetics. Prosthodontic rehabilitation can be accomplished with fixed, overdenture, complete, or implant retained prosthesis. For rehabilitation, it is crucial to know the age, number and condition of the present teeth, and the state of growth of the patient. A 14- year old male, patient was treated by a multidisciplinary team of surgeons, endodontist, and prosthodontists. Fixed partial denture was considered for esthetics, phonetics, function and comfort in maxillary arch and resin bonded bridge in mandibular anterior region for esthetics [ABSTRACT FROM AUTHOR]

The article describes the case of a female child presented with a Treacher Collins Syndrome (TCS) and was posted for mandibular distraction. Particular focus is given to the induction of anaesthesia and management of airway. Common facial features of TCS include cleft palate, macrostomia and colobomas. It outlines the results of the examination, such as anaesthetic evaluation and respiratory system assessment. The patient was able to swallow food after total distraction.

Treacher Collins syndrome (TCS) is characterized by an abnormality in craniofacial development during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Genetic and proteomic characterizations of TCS/treacle are based on the previously reported 26 exons of TCOF1. Here, we report the identification of 231-nucleotide (nt) exon 6A (between exons 6 and 7) and 108-nt exon 16A (between exons 16 and 17). Isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A. Exon 6A encodes a peptide sequence containing basic and acidic domains similar to 10 other exons of TCOF1. Unlike the other exons, exon 6A encodes a nuclear localization signal (NLS) which does not, however, alter the nucleolar localization of full-length treacle. The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product. [Copyright &y& Elsevier]

Background: Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births. Although TCOF1, POLR1D, and POLR1C, have been identified as the pathogenic genes for about 90% TCS patients, the pathogenic variants of about 8-11% cases remain unknown. The object of this study is to describe the molecular basis of 14 clinically diagnosed TCS patients from four families using Whole-exome sequencing (WES) followed by Sanger sequencing confirmation, and to analyze the effect of bone conduction hearing rehabilitation in TCS patients with bilateral conductive hearing loss.Results: Four previously unreported heterozygous pathogenic variants (c.3047-2A > G, c.2478 + 5G > A, c.489delC, c.648delC) were identified in the TCOF1 gene, one in each of the four families. Sanger sequencing in family members confirmed co-segregation of the identified TCOF1 variants with the phenotype. The mean pure-tone threshold improvements measured 3 months after hearing intervention were 28.8 dB for soft-band BAHA, 36.6 ± 2.0 dB for Ponto implantation, and 27.5 dB SPL for Bonebridge implantation. The mean speech discrimination improvements measured 3 months after hearing intervention in a sound field with a presentation level of 65 dB SPL were 44%, 51.25 ± 5.06, and 58%, respectively. All six patients undergoing hearing rehabilitation in this study got a satisfied hearing improvement.Conclusions: WES combined with Sanger sequencing enables the molecular diagnosis of TCS and may detect other unknown causative genes. Bone conduction hearing rehabilitation may be an optimal option for TCS patients with bilateral conductive hearing loss. [ABSTRACT FROM AUTHOR]

This article discusses hemifacial microsomia and Treacher Collins syndrome relative to the nature of these congenital deformities as well as the clinical, radiographic, and diagnostic characteristics. These patients often have severe facial deformities with hypoplasia or aplasia of the temporomandibular joints (TMJs) and mandible. The surgical treatment options are presented, including the advantages and disadvantages of autogenous tissues versus patient-fitted total joint prostheses to reconstruct the TMJs and mandible as well as counterclockwise rotation of the maxillomandibular complex., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understanding of the role of the ribosome in translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and the relationship between ribosomal dysfunction and other diseases, especially cancer. This review aims to discuss these topics with updated information.