Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 819-822, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-826479
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.
Full text:
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Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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