A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1.
- Author:
Jin Mo PARK
1
;
Yun Jeong LEE
;
Jin Sung PARK
Author Information
- Publication Type:Case Report
- Keywords: Trichorhinophalangeal syndrome; Genes; Phenotype
- MeSH: Brachydactyly; Databases, Genetic; Diagnosis; Epiphyses; Exons; Fatigue; Femur; Frameshift Mutation*; Hair; Hip Joint; Humans; Male; Metacarpal Bones; Metatarsal Bones; Nose; Phenotype*; Wills; Young Adult
- From:Journal of Genetic Medicine 2018;15(2):97-101
- CountryRepublic of Korea
- Language:English
- Abstract: Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.
