[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].
Copyright policy )[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].
To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).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.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.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.
- Shandong Provincial Hospital China (People's Republic of)
Male, China, Asian People, Receptors, Peptide, Mutation, Humans, Hyaline Fibromatosis Syndrome, Pedigree, Retrospective Studies
Male, China, Asian People, Receptors, Peptide, Mutation, Humans, Hyaline Fibromatosis Syndrome, Pedigree, Retrospective Studies
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