Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Department of Gynecology and Obstetrics, Odense University Hospital, Odense, Denmark.
Clin Genet. 2020 May;97(5):779-784. doi: 10.1111/cge.13725. Epub 2020 Feb 24.
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 TP63 is limb mammary syndrome (LMS), an autosomal dominant inherited disorder characterized by ectrodactyly, hypoplasia of mammary-gland and nipple, lacrimal duct stenosis, nail dysplasia, dental anomalies, cleft palate and/or cleft lip and absence of skin and hair defects. The TP63 variant segregated with symptoms of LMS in the family, however, no affected individual had limb defects. The phenotype reported here represents a novel syndromic phenotype associated with TP63. Reported cases with TP63 associated POI are reviewed.
越来越多的证据表明，TP63 与孤立性和综合征性卵巢早衰（POI）有关。我们报告了两名被诊断为卵巢不可检测、子宫发育不良和乳腺发育不良的青春期姐妹。通过外显子组测序鉴定出一种新的 TP63 父系遗传无义变异 [NM_003722.4 c.1927C>T,p.(Arg643*)]，位于外显子 14 中。与 TP63 相关的综合征之一是肢体乳腺综合征（LMS），这是一种常染色体显性遗传疾病，其特征是并指（趾）畸形、乳腺和乳头发育不良、泪管狭窄、指甲发育不良、牙齿异常、腭裂和/或唇裂以及无皮肤和毛发缺陷。该 TP63 变异在家族中与 LMS 的症状分离，但没有受累个体存在肢体缺陷。这里报告的表型代表了一种与 TP63 相关的新的综合征表型。综述了与 TP63 相关的 POI 相关病例。
