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

Three 46,XY girls with primary amenorrhea carried novel homozygous nonsense mutations in the LHCGR gene. LHCGR mutations may be a more common cause of primary amenorrhea than previously considered.

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Authors

Imen Ben Hadj Hmida, Ph.D., Soumaya Mougou-Zerelli, M.D., Ph.D., Anis Hadded, M.D., Sarra Dimassi, M.D., Ph.D., Molka Kammoun, M.D., Ph.D., Joelle Bignon-Topalovic, B.Sc., Mohamed Bibi, M.D., Ali Saad, M.D., Ph.D., Anu Bashamboo, Ph.D., Ken McElreavey, Ph.D.

Abstract

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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(16)300...

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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