A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

中文翻译：

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与严重 Perrault 综合征相关的 CLPP 纯合新型截短变体

一名女性先证者和她受影响的侄女对于一种新型的CLPP 移码变体是纯合的。 先证者被诊断患有严重的佩罗综合征，包括听力损失、原发性卵巢功能不全、脑白质异常和发育迟缓。