The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

ABSTRACT:

Objective

Trichorhinophalangeal syndrome is a rare autosomal dominant disorder characterized by distinctive craniofacial and skeletal abnormalities. This study aimed to delineate the trichorhinophalangeal syndrome phenotype and to compare the clinical and molecular findings between trichorhinophalangeal syndrome types I and II.

Materials and methods

A total of 22 trichorhinophalangeal syndrome patients aged 0.9-45 years from 17 families were enrolled. Nineteen patients were diagnosed with trichorhin ophalangeal syndrome I and 3 with trichorhinophalangeal syndrome II. Genetic analyses were made by TRPS1 sequencing and/or chromosomal microarray analyses.

Results

A novel frameshift variant (c.531_532del), a known missense variant, and whole-gene deletions were the pathog

SUBMITTER: Gunes N 

PROVIDER: S-EPMC9885788 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature