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Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Clin Otolaryngol. 2020 09; 45(5):695-702.CO

Abstract

Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.

OBJECTIVE

To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand.

METHOD

Clinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct sequencing were performed.

RESULTS

All of the patients affected with Treacher Collins syndrome carried a novel TCOF1 mutation (c.4138_4142del; p.Lys1380GlufsTer12), but clinically they did not have the typical facial gestalt of Treacher Collins syndrome, which includes downward-slanting palpebral fissures, colobomas of the lower eyelids, absence of eyelashes medial to the colobomas, malformed pinnae, hypoplastic zygomatic bones and mandibular hypoplasia. Lateral cephalometric analyses identified short anterior and posterior cranial bases, and hypoplastic maxilla and mandible. Computed tomography showed fusion of malleus and incus, sclerotic mastoid, hypoplastic middle ear space with a soft tissue remnant, dehiscence of facial nerve and monopodial stapes.

CONCLUSION

Treacher Collins syndrome in Sgaw Karen patients has not been previously documented. This is the first report of monopodial stapes in a TCS patient who had a TCOF1 mutation. The absence of a common facial phenotype and/or the presence of monopodial stapes may be the effects of this novel TCOF1 mutation.

Authors+Show Affiliations

Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. Dentaland Clinic, Chiang Mai, Thailand.Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor, MI, USA.Department of Surgery, Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine, Stanford, CA, USA.National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand Science Park, Pathum Thani, Thailand.National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand Science Park, Pathum Thani, Thailand.Department of Otolaryngology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32351010

Citation

Kantaputra, Piranit Nik, et al. "Treacher Collins Syndrome: a Novel TCOF1 Mutation and Monopodial Stapes." Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, vol. 45, no. 5, 2020, pp. 695-702.
Kantaputra PN, Tripuwabhrut K, Intachai W, et al. Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. Clin Otolaryngol. 2020;45(5):695-702.
Kantaputra, P. N., Tripuwabhrut, K., Intachai, W., Carlson, B. M., Quarto, N., Ngamphiw, C., Tongsima, S., & Sonsuwan, N. (2020). Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, 45(5), 695-702. https://doi.org/10.1111/coa.13560
Kantaputra PN, et al. Treacher Collins Syndrome: a Novel TCOF1 Mutation and Monopodial Stapes. Clin Otolaryngol. 2020;45(5):695-702. PubMed PMID: 32351010.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes. AU - Kantaputra,Piranit Nik, AU - Tripuwabhrut,Kanich, AU - Intachai,Worrachet, AU - Carlson,Bruce M, AU - Quarto,Natalina, AU - Ngamphiw,Chumpol, AU - Tongsima,Sissades, AU - Sonsuwan,Nuntigar, Y1 - 2020/05/25/ PY - 2019/10/28/received PY - 2020/04/23/revised PY - 2020/04/27/accepted PY - 2020/5/1/pubmed PY - 2021/10/9/medline PY - 2020/5/1/entrez KW - dehiscence of facial nerve KW - fusion of malleus and incus KW - hypoplastic middle ear space with a soft tissue remnant KW - mandibulofacial dysplasia KW - middle ear malformations KW - sclerotic mastoid KW - short anterior and posterior cranial bases SP - 695 EP - 702 JF - Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery JO - Clin Otolaryngol VL - 45 IS - 5 N2 - : Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. OBJECTIVE: To investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand. METHOD: Clinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct sequencing were performed. RESULTS: All of the patients affected with Treacher Collins syndrome carried a novel TCOF1 mutation (c.4138_4142del; p.Lys1380GlufsTer12), but clinically they did not have the typical facial gestalt of Treacher Collins syndrome, which includes downward-slanting palpebral fissures, colobomas of the lower eyelids, absence of eyelashes medial to the colobomas, malformed pinnae, hypoplastic zygomatic bones and mandibular hypoplasia. Lateral cephalometric analyses identified short anterior and posterior cranial bases, and hypoplastic maxilla and mandible. Computed tomography showed fusion of malleus and incus, sclerotic mastoid, hypoplastic middle ear space with a soft tissue remnant, dehiscence of facial nerve and monopodial stapes. CONCLUSION: Treacher Collins syndrome in Sgaw Karen patients has not been previously documented. This is the first report of monopodial stapes in a TCS patient who had a TCOF1 mutation. The absence of a common facial phenotype and/or the presence of monopodial stapes may be the effects of this novel TCOF1 mutation. SN - 1749-4486 UR - https://www.unboundmedicine.com/medline/citation/32351010/Treacher_Collins_syndrome:_A_novel_TCOF1_mutation_and_monopodial_stapes_ L2 - https://doi.org/10.1111/coa.13560 DB - PRIME DP - Unbound Medicine ER -