Trichorhinophalangeal Syndrome Type I : A Patient with Two Novel and Different Mutations in the TRPS1 Gene
Joint Authors
Santos, Helena
Dias, Catarina
Marques, Jorge Sales
Santos, Mafalda
Isidoro, Lara
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-17
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background.
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene.
Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities.
TRPS II includes the additional characteristics of mental retardation and multiple exostoses.
Case Report.
We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p.
Gln400X) and c.2086C>T (p.Arg696X).
None of these mutations were found in her parents.
Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities.
Discussion.
There is a wide variability in clinical expression of TRPS I.
Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem.
Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures.
When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.
American Psychological Association (APA)
Dias, Catarina& Isidoro, Lara& Santos, Mafalda& Santos, Helena& Marques, Jorge Sales. 2013. Trichorhinophalangeal Syndrome Type I : A Patient with Two Novel and Different Mutations in the TRPS1 Gene. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-495535
Modern Language Association (MLA)
Dias, Catarina…[et al.]. Trichorhinophalangeal Syndrome Type I : A Patient with Two Novel and Different Mutations in the TRPS1 Gene. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-495535
American Medical Association (AMA)
Dias, Catarina& Isidoro, Lara& Santos, Mafalda& Santos, Helena& Marques, Jorge Sales. Trichorhinophalangeal Syndrome Type I : A Patient with Two Novel and Different Mutations in the TRPS1 Gene. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-495535
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-495535