Genetic variations in patient with Parry-Romberg syndrome.

ABSTRACT: Parry-Romberg syndrome is a rare craniofacial disorder which is characterized by progressive facial atrophy. The etiology and pathogenesis of the disease are not known. Herein, we report the genetic variants in patient with this disease. A 25-year-old woman was diagnosed with Parry-Romberg syndrome according to her clinical manifestation, which presented with typical progressive unilateral facial soft tissue atrophy. Using peripheral blood samples, Whole exome sequencing (WES) was conducted on this patient and her parents. Variant loci of the genes were validated by Sanger sequencing in her twin sister who had no Parry-Romberg syndrome. Subsequently, we searched the GeneCards^®: the Human Gene Database for variant genes, annotated them and analyzed their functions. The results of

SUBMITTER: Yu BF 

PROVIDER: S-EPMC9829853 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature