1. [Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].
- Author
-
Yang J, Shang X, Liu F, Wang Q, Liu C, Sun Y, and Li G
- Subjects
- Asian People genetics, China, Humans, Male, Mutation, Pedigree, Retrospective Studies, Hyaline Fibromatosis Syndrome genetics, Receptors, Peptide genetics
- Abstract
Objective: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS)., Methods: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster., Results: The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up., Conclusion: The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
- Published
- 2021
- Full Text
- View/download PDF