[Clinical and genetic analysis of five Chinese pedigrees affected with short stature due to variants of ACAN gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(10): 942-946, 2021 Oct 10.
Article
en Zh
| MEDLINE
| ID: mdl-34625928
ABSTRACT
OBJECTIVE:
To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature.METHODS:
A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted.RESULTS:
The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported).CONCLUSION:
Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Estatura
/
Agrecanos
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
China