Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 232-237, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879560
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
China
/
Retrospective Studies
/
Receptors, Peptide
/
Asian People
/
Hyalinosis, Systemic
/
Mutation
Type of study:
Observational study
/
Prognostic study
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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