Details

Autor(en) / Beteiligte

• Flores-Cuevas, Arturo
• Mutchinick, Oswaldo
• Morales-Suárez, Jose J.
• González-Huerta, Luz Maria
• Cuevas-Covarrubias, Sergio A.

Titel

Identification of Two Novel Mutations in TRPS1 Gene in Families With Tricho-Rhino-Phalangeal Type I Syndrome

Ist Teil von

• Journal of investigative medicine, 2012-06, Vol.60 (5), p.823-826

Ort / Verlag

Los Angeles, CA: SAGE Publications

Erscheinungsjahr

2012

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• BackgroundAutosomal dominant tricho-rhino-phalangeal syndrome I (TRPS I) is due to mutations in the TRPS1 gene. Tricho-rhino-phalangeal syndrome I is characterized by peculiar face and skeletal anomalies. Cone-shaped epiphyses are the characteristic radiographic findings.ObjectiveTo describe 2 families with TRPS I and 2 novel mutations in the TRPS1 gene.PatientsThe study included 2 nonrelated families with TRPS I. All exons of the TRPS1 gene were analyzed from genomic DNA.ResultsThe TRPS1 gene mutation analysis showed in family 1 the c.978C>A nonsense mutation within exon 4 and in family 2 the c.164A>C missense mutation within exon 3.ConclusionsWe found 2 families with TRPS1 caused by 2 novel mutations in the TRPS gene, particularly a missense mutation in exon 3, outside the GATA zinc finger domain, that leads a mild TRPS phenotype. Our data show a higher genotypic spectrum in the TRPS I and demonstrate that mutations in the amino terminus of the transcription factor result in TRPS I syndrome.