The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis. Both affected individuals had a marfanoid habitus and no neurological features. Both patients carried the homozygous variant c.1565C>A; p.Thr522Asn in exon 13 of the LARS2 gene. This variant has already been reported as a homozygous variant in three other Perrault syndrome families. Both affected siblings of a Moroccan consanguineous family with LARS2 variants had low-frequency sensorineural hearing loss, marfanoid habitus, and primary ovarian insufficiency in the affected girl. According to the literature, this variant, c.1565C>A; p.Thr522Asn, can be correlated with low-frequency hearing loss. However, marfanoid habitus was been considered a nonspecific feature in Perrault syndrome, but we believe that it may be more specific than considered previously. This diagnosis allowed us to provide appropriate management to the patients and to provide more accurate genetic counseling to this family.

中文翻译：

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Marfanoid 习性是 Perrault 综合征的非特异性特征。

本研究的目的是报告摩洛哥家族中 LARS2 基因纯合变异 c.1565C>A 的两个 Perrault 综合征病例的临床和生物学特征，并通过回顾文献。进行了全外显子组测序。通过Sanger测序和分离进行数据分析和确认。受影响的兄弟姐妹被诊断为患有低频率感音神经性听力损失的 Perrault 综合征；女性先证者有原发性闭经和卵巢发育不全。两个受影响的个体都有马凡氏体征，没有神经学特征。两名患者均携带纯合变体 c.1565C>A；LARS2 基因外显子 13 中的 p.Thr522Asn。该变体已被报道为其他三个 Perrault 综合征家族的纯合变体。患有 LARS2 变异的摩洛哥近亲家庭的两个受影响的兄弟姐妹在受影响的女孩中都有低频感音神经性听力损失、marfanoid 习惯和原发性卵巢功能不全。根据文献，这个变种，c.1565C>A；p.Thr522Asn，可与低频听力损失相关。然而，marfanoid 习性被认为是 Perrault 综合征的非特异性特征，但我们认为它可能比以前考虑的更具体。这一诊断使我们能够为患者提供适当的管理，并为这个家庭提供更准确的遗传咨询。患有 LARS2 变异的摩洛哥近亲家庭的两个受影响的兄弟姐妹在受影响的女孩中都有低频感音神经性听力损失、marfanoid 习惯和原发性卵巢功能不全。根据文献，这个变种，c.1565C>A；p.Thr522Asn，可与低频听力损失相关。然而，marfanoid 习性被认为是 Perrault 综合征的非特异性特征，但我们认为它可能比以前考虑的更具体。这一诊断使我们能够为患者提供适当的管理，并为这个家庭提供更准确的遗传咨询。患有 LARS2 变异的摩洛哥近亲家庭的两个受影响的兄弟姐妹在受影响的女孩中都有低频感音神经性听力损失、marfanoid 习惯和原发性卵巢功能不全。根据文献，这个变种，c.1565C>A；p.Thr522Asn，可与低频听力损失相关。然而，marfanoid 习性被认为是 Perrault 综合征的非特异性特征，但我们认为它可能比以前考虑的更具体。这一诊断使我们能够为患者提供适当的管理，并为这个家庭提供更准确的遗传咨询。Marfanoid 习性被认为是 Perrault 综合征的非特异性特征，但我们认为它可能比以前考虑的更具体。这一诊断使我们能够为患者提供适当的管理，并为这个家庭提供更准确的遗传咨询。Marfanoid 习性被认为是 Perrault 综合征的非特异性特征，但我们认为它可能比以前考虑的更具体。这一诊断使我们能够为患者提供适当的管理，并为这个家庭提供更准确的遗传咨询。