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引用次数: 1
摘要
背景:Bardet-Biedl综合征(BBS)是一种罕见的常染色体隐性纤毛病，以杆状锥体营养不良、中枢性肥胖、多指畸形、认知障碍、性腺功能减退和/或泌尿生殖系统畸形以及肾脏异常为主要特征。至少有21个与BBS相关的基因被报道。迄今为止，与BBS12变异相关的BBS从未在日本人群中被描述过。我们报告一例日本婴儿女性BBS伴复合杂合BBS12变异。方法:在儿童检查的基础上，进行眼底摄影、全视野视网膜电图(ffERG)和全外显子组测序(WES)。结果:婴儿表现为肥胖、多指畸形、认知障碍、泌尿生殖系统畸形和肾功能障碍。在2岁时，ffERG显示杆状和锥体介导的视网膜电图反应严重减少，与严重形式的杆状锥体营养不良相一致，视网膜异常很小。WES在婴儿中发现了新的复合杂合BBS12变异(c.591T > A, p.Tyr197*和c.1372dupA, p.Thr458Asnfs*5)。经桑格测序证实，她的父母携带了每一种变体。结论:目前的观察结果将有助于扩大对bbs12相关BBS基因型-表型关联的理解。
Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese population. We report a Japanese infant female with BBS with compound heterozygous BBS12 variants.
Methods: In addition to the pediatric examination, fundus photography, full-field electroretinogram(ffERG) and whole exome sequencing (WES) were underwent.
Results: The infant exhibited obesity, polydactyly, cognitive impairment, genitourinary malformations, and kidney dysfunction. At the age of 2 years, ffERG revealed severe reduction in both rod- and cone-mediated electroretinographic responses consistent with a severe form of rod-cone dystrophy, with minimal retinal abnormalities. WES revealed novel compound heterozygous BBS12 variants (c.591T > A, p.Tyr197* and c.1372dupA, p.Thr458Asnfs*5) in the infant. Her parents carried each of the variants, as confirmed by Sanger sequencing.
Conclusions: The current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.
期刊介绍：
Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).
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