Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland; Center for Medical Genetics GENESIS, Poznań, Poland.
Mitochondrion. 2013 Nov;13(6):831-4. doi: 10.1016/j.mito.2013.05.011. Epub 2013 Jun 6.
Perrault syndrome (PS) is a rare autosomal recessive condition with ovarian dysgenesis, hearing deficit and neurological abnormalities in female patients. The molecular basis of the syndrome is heterogeneous, mutations in the HSD17B4 gene have been identified in one family and mutations in the HARS2 gene have been found in another one. We have excluded pathogenic changes in the HSD17B4 gene and in the HARS2 gene by a direct sequencing of all coding exons in a female with clinical hallmarks of PS, ataxia and mild mental retardation. In addition, the patient suffers from severe Leber's hereditary optic neuropathy (LHON) due to 11778G>A mtDNA mutation. This case is the first reported patient with PS and LHON. Possible influence of hypoestrogenism on the manifestation of optic neuropathy in this patient is discussed in the context of recent findings concerning the crucial role of estrogens in supporting the vision capacity in LHON-related mtDNA mutation carriers.
佩罗特综合征（PS）是一种罕见的常染色体隐性疾病，女性患者表现为卵巢发育不全、听力缺陷和神经异常。该综合征的分子基础具有异质性，在一个家族中发现了 HSD17B4 基因突变，在另一个家族中发现了 HARS2 基因突变。我们通过对一名具有 PS、共济失调和轻度智力障碍临床特征的女性进行所有编码外显子的直接测序，排除了 HSD17B4 基因和 HARS2 基因突变。此外，该患者还患有严重的莱伯遗传性视神经病变（LHON），原因是 11778G>A mtDNA 突变。该病例是首例报道的 PS 和 LHON 合并病例。鉴于雌激素在支持 LHON 相关 mtDNA 突变携带者的视力方面的关键作用，本文讨论了雌激素水平低下对该患者视神经病变表现的可能影响。
