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Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome
Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families.
patients, analysis, england, children, protein, diagnosis, mutation, termination codon, hearing loss, disease, family, mandibulofacial dysostosis, syndrome, genetic-linkage, reveals, time, families, postnatal, tcof1, treacher collins syndrome, prenatal diagnosis
1552-4825
244-248
Dixon, Jill
0815b105-407a-42f1-a10e-636842d64b6d
Ellis, Ian
2bbc0c1c-dc98-4b43-9f7b-f81d21cf9f63
Bottani, Armand
df2882ca-35ec-434d-9264-9bde2b5b4a8e
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Dixon, Michael James
c9b3f23c-eae5-42d7-bafb-46329dfefab8
Dixon, Jill
0815b105-407a-42f1-a10e-636842d64b6d
Ellis, Ian
2bbc0c1c-dc98-4b43-9f7b-f81d21cf9f63
Bottani, Armand
df2882ca-35ec-434d-9264-9bde2b5b4a8e
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Dixon, Michael James
c9b3f23c-eae5-42d7-bafb-46329dfefab8

Dixon, Jill, Ellis, Ian, Bottani, Armand, Temple, Karen and Dixon, Michael James (2004) Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. American Journal of Medical Genetics: Part A, 127A (3), 244-248. (doi:10.1002/ajmg.a.30010).

Record type: Article

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families.

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More information

Published date: 15 June 2004
Keywords: patients, analysis, england, children, protein, diagnosis, mutation, termination codon, hearing loss, disease, family, mandibulofacial dysostosis, syndrome, genetic-linkage, reveals, time, families, postnatal, tcof1, treacher collins syndrome, prenatal diagnosis

Identifiers

Local EPrints ID: 59682
URI: https://eprints.soton.ac.uk/id/eprint/59682
ISSN: 1552-4825
PURE UUID: 816b5dff-55d4-4369-b280-ea1b873573a1
ORCID for Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 11 Mar 2009
Last modified: 18 Jul 2019 12:10

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