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Article

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.

Clinical genetics - 1 May 2020

Mathorne Stine W, Ravn Pernille, Hansen Dorte, Beck-Nielsen Signe S, Gjørup Hans, Sørensen Kristina P, Fagerberg Christina R

Abstract excerpt

There is growing evidence that TP63 is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters diagnosed with undetectable ovaries, uterine hypoplasia, and mammary gland hypoplasia. A novel paternally inherited nonsense variant in TP63 [NM_003722.4 c.1927C > T,p.(Arg643*)] in exon 14 was identified by exome sequencing. One of the syndromes linked to...

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PMID: 32067224
DOI: 10.1111/cge.13725

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