[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 819-822, 2020 Aug 10.
Article
en Zh
| MEDLINE
| ID: mdl-32761586
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a patient with Leydig cell hypoplasia.METHODS:
Whole exome sequencing was used to detect genetic variants in the patient. Suspect variants were verified by PCR and Sanger sequencing of the family members.RESULTS:
The patient was found to carry two novel variants, namely c.265A>T (p.Ile189Leu) and c.422T>C (p.Val141Ala), of the luteinizing hormone receptor gene (LHCGR), where were respectively inherited from her father and mother. Upon prenatal diagnosis, the fetus was found to be a heterozygous carrier of the c.265A>T (p.Ile189Leu) variant.CONCLUSION:
The compound heterozygous variants of c.265A>T (p.Ile189Leu) and c.422T>C (p.Val141Ala) of the LHCGR gene probably underlie the Leydig cell hypoplasia in the patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Testículo
/
Receptores de HL
/
Trastorno del Desarrollo Sexual 46,XY
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
China