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.
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.
Authors: Francesca Marta Elli; Deborah Mattinzoli; Camilla Lucca; Matteo Piu; Maria A Maffini; Jole Costanza; Laura Fontana; Carlo Santaniello; Concetta Forino; Donatella Milani; Maria Teresa Bonati; Andrea Secco; Roberto Gastaldi; Carlo Alfieri; Piergiorgio Messa; Monica Miozzo; Maura Arosio; Giovanna Mantovani Journal: J Bone Miner Res Date: 2022-01-17 Impact factor: 6.390