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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
China
/
Estudios Retrospectivos
/
Receptores de Péptidos
/
Pueblo Asiatico
/
Síndrome de Fibromatosis Hialina
/
Mutación
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS