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© Research
Publication : Fertility and sterility

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Fertility and sterility - 22 Mar 2016

Ben Hadj Hmida I, Mougou-Zerelli S, Hadded A, Dimassi S, Kammoun M, Bignon-Topalovic J, Bibi M, Saad A, Bashamboo A, McElreavey K

Link to Pubmed [PMID] – 27016457

Fertil. Steril. 2016 07;106(1):225-229.e11

OBJECTIVE: To determine the genetic cause of 46,XY primary amenorrhea in three 46,XY girls.

DESIGN: Whole exome sequencing.

SETTING: University cytogenetics center.

PATIENT(S): Three patients with unexplained 46,XY primary amenorrhea were included in the study.

INTERVENTION(S): Potentially pathogenic variants were confirmed by Sanger sequencing, and familial segregation was determined where parents’ DNA was available.

MAIN OUTCOME MEASURE(S): Exome sequencing was performed in the three patients, and the data were analyzed for potentially pathogenic mutations. The functional consequences of mutations were predicted.

RESULT(S): Three novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene were identified:c.1573 C→T, p.Gln525Ter, c.1435 C→T p.Arg479Ter, and c.508 C→T, p.Gln170Ter.

CONCLUSION(S): Inactivating mutations of the LHCGR gene may be a more common cause of 46,XY primary amenorrhea than previously considered.