Bardet-Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan.

中文翻译：

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在一名日本患者中鉴定出一种新型的TTC8复合杂合突变。

Bardet-Biedl综合征（BBS）的特征是杆状锥体营养不良，后轴多指，中心性肥胖，性腺功能减退，肾脏异常和智力低下，是一种罕见的常染色体隐性遗传疾病。迄今为止，已经报道了21种致病基因。在这里，我们描述了日本BBS患者在TTC8中具有新型复合杂合突变。据我们所知，这是日本首例描述TTC8基因突变的BBS患者。