A Case of Treacher Collins Syndrome

Demir, Selma; Gürkan, Hakan; Vatansever, Ülfet; Kürkçü, K; Tozkır, Hilmi; Acunaş, BA

doi:10.2478/bjmg-2013-0036

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…Although there is no clear explanation yet, genotype and phenotype discordance have been suggested by some studies. In some individuals, phenotypic expression of TCS is so mild that it is near impossible to diagnose based on physical examination alone (26). In contrast, some patients may succumb to respiratory distress soon after birth due to the severity of TCS symptoms (26).…”

Section: Discussionmentioning

confidence: 99%

“…In some individuals, phenotypic expression of TCS is so mild that it is near impossible to diagnose based on physical examination alone (26). In contrast, some patients may succumb to respiratory distress soon after birth due to the severity of TCS symptoms (26). More than 60% of patients with TCS have no positive family history and the condition is thought to arise from de novo mutations (5).…”

Section: Discussionmentioning

confidence: 99%

“…At present, the reason for the differences in TCS presentation remains unknown. The wide variation in symptoms has been attributed to modifier genes, epigenetic factors and the role of wild-type alleles (26)(27)(28). Some studies have demonstrated that patient phenotype is not dependent on the type or localization of the mutation responsible (21,23).…”

Section: Discussionmentioning

confidence: 99%

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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Yan

Wang

et al. 2018

Exp Ther Med

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Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the gene, which are inherited via an autosomal dominant pattern, while<2% cases are caused by and genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9-year-old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in exon 3 splicing site c.165-1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165-1G>A is a novel heterozygous mutation of the gene that caused the development of TCS in the proband and her mother. The mutation that was identified in proband was inherited from her mother and so can be considered as mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Yan

Wang

et al. 2018

Exp Ther Med

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“…About 60% of the cases occur from genetic mutation within the patient, without transmission of the defective gene by their parents, and other 40% of cases comprise autosomal dominant genetic inheritance 5 . The first syndrome-related gene, TCOF1, was only identified in 1996 6 .…”

Section: Introductionmentioning

confidence: 99%

“…Mutations in this gene are responsible for about 90% of TCS cases 7 . Over 130 pathogenic mutations have already been identified in TCOF1 gene 5 . In 2011, two other syndrome-related genes were identified: POLR1C and POLR1D…”

Section: Introductionmentioning

confidence: 99%

Speech language pathology findings in a Treacher Collins syndrome patient

Massi¹,

França²,

Santos³

et al. 2016

The International Tinnitus Journal

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Clinical and molecular study of Egyptian patients with Treacher Collins syndrome

Elbagoury,

Nabil,

Abdel-Aleem

et al. 2023

Clinical Dysmorphology

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Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes (TCOF1, POLR1D, POLR1C, and POLR1B) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants was applied for genetic testing of eight Egyptian patients with typical TCS phenotype, representing the first molecular analysis of TCS patients in Egypt as well as in Arab countries. Five heterozygous frameshift mutations were reported, including four variants in the TCOF1 gene (c.3676_3694delinsCTCTGG, c.3984_3985delGA, c.4366_4369delGAAA, and c.3388delC) and one variant in the POLR1D gene (c.60dupA). Four variants were novel extending the disease mutation spectrum. In three affected individuals, no variants of interest were identified in genes associated with TCS or clinically overlapping conditions. Additionally, no relevant variant was detected in genes encoding other subunits of RNA polymerase (pol) I. Molecular analysis is important to provide accurate genetic counseling. It would also contribute to reduced disease incidence. Further studies should be designed to investigate other possible etiologies when no pathogenic variants were revealed in either of the known genes.

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A Case of Treacher Collins Syndrome

Cited by 4 publications

References 10 publications

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome

Speech language pathology findings in a Treacher Collins syndrome patient

Clinical and molecular study of Egyptian patients with Treacher Collins syndrome

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