Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea Imen Ben Hadj Hmida, Ph.D.,

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Presentation transcript:

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea 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. Fertility and Sterility Volume 106, Issue 1, Pages 225-229.e11 (July 2016) DOI: 10.1016/j.fertnstert.2016.03.008 Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 1 (A) MRI of the pelvis, sagittal section, T2-weighted, of case II. 1 = bladder; 2 = pubic symphysis; 3 = vagina; 4 = rectum; 5 = uterus; L5 = L5 vertebral body; S = sacrum; arrow = absence of gonads. (B) Metaphase fluorescence in situ hybridization analysis using an a commercial SRY probe (orange) and an X centromere probe (green) was performed according to the manufacturer's instructions (Vysis). (C) Sequence chromatogram revealing a homozygous point mutation at nucleotide position c.1595 C→T/p.Gln525Ter of LHCGR in case 1 (A). Mother (B) and father (C) are heterozygous. (D) Sequence chromatogram revealing a homozygous nonsense mutation at nucleotide position c. 1457 C→T (p.Arg479Ter) of LHCGR in case 2 and (E) the c.508 C→T, (p.Gln170Ter) of LHCGR in case 3. Fertility and Sterility 2016 106, 225-229.e11DOI: (10.1016/j.fertnstert.2016.03.008) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Pedigrees indicating the affected 46,XY females with primary amenorrhea (solid circles). Squares represent male family members, and circles represent female family members. In each family, the female sibs were either married with children or had spontaneous puberty with regular cycles, suggesting that they are unaffected. Numbers within symbols indicate multiple siblings. Symbols with a slash represent a deceased individual. Fertility and Sterility 2016 106, 225-229.e11DOI: (10.1016/j.fertnstert.2016.03.008) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 2 The LHCGR protein sequence. The position of the three homozygous nonsense mutations is indicated by the red arrow. For each mutation, the truncated transcripts are predicted to be eliminated by nonsense mediated decay. The transmembrane domains are highlighted in red, and the genomic exon boundaries are indicated by a black arrow. Fertility and Sterility 2016 106, 225-229.e11DOI: (10.1016/j.fertnstert.2016.03.008) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions