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Identification of Two Novel Mutations in TRPS1 Gene in Families With Tricho-Rhino-Phalangeal Type I Syndrome
  1. Arturo Flores-Cuevas, MD*,
  2. Oswaldo Mutchinick, MD,
  3. Jose J. Morales-Suárez, MD,
  4. Luz Maria González-Huerta, MD,
  5. Sergio A. Cuevas-Covarrubias, PhD
  1. From the *Servicio de Genética, Hospital Infantil de México Federico Gómez, Mexico City, Mexico; †Servicio de Genética, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico; and ‡Servicio de Genética, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.
  1. Received January 26, 2011.
  2. Accepted for publication January 23, 2012.
  3. Reprints: Sergio A. Cuevas-Covarrubias, PhD, Servicio de Genética, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México, Dr. Balmis 148, Col. Doctores, CP 06726. México DF, México. E-mail: sercuevas{at}, sergioa{at}
  4. This work was supported by CONACyT grant FONSEC SSA/IMSS/ISSSTE number 115526.
  5. The authors have no conflict of interest in connection with this paper.


Background Autosomal 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.

Objective To describe 2 families with TRPS I and 2 novel mutations in the TRPS1 gene.

Patients The study included 2 nonrelated families with TRPS I. All exons of the TRPS1 gene were analyzed from genomic DNA.

Results The 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.

Conclusions We 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.

Key Words
  • TRPS1 gene
  • TRPS I syndrome
  • tricho-rhino-phalangeal

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