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Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer  Karen C. Wheeler,

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Presentation on theme: "Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer  Karen C. Wheeler,"— Presentation transcript:

1 Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer  Karen C. Wheeler, M.D., Dillon J. Warr, Sarah I. Warsetsky, M.D., Larry I. Barmat, M.D.  Fertility and Sterility  Volume 105, Issue 1, Pages (January 2016) DOI: /j.fertnstert Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

2 Figure 1 Pedigree of the family with novel fumarate hydratase mutation Leu99Glufsx6, showing hereditary leiomyomatosis and renal cell cancer (HLRCC)–associated conditions. NOS = not otherwise specified. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

3 Figure 2 (A) magnetic resonance imaging of the enlarged uterus with multiple fibroids (asterisk) of the patient in case 1 (III-1) before her second myomectomy. (B and C) Gross pathologic specimen of (B) dominant fibroid and (C) all fibroids removed from patient III-1 at her first myomectomy. (D) Cytologic atypia and the perinuclear halo (arrow) seen in the atypical leiomyoma specimen from patient 3 (III-4). Scale bar = 30 μm. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

4 Figure 3 Cutaneous leiomyomas present on the forearm of patient III-4.
Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

5 Figure 4 Representation of wild-type and Leu99Gluf×6 fumarate hydratase proteins including amino acid residues critical for enzymatic function of FH. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions


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