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诺布洛赫综合征患者的临床和分子发现1:病例系列报告

Tatyana Vasilyeva¹, Vitaly Kadyshev¹, Olga Khalanskaya¹

¹Research Centre for Medical Genetics, 115522 Moscow, Russia.

|October 26, 2024

概括

诺布洛克综合征1 (KS) 是一种罕见的遗传疾病,影响视力和头骨发育. 分子诊断证实了两个新家族的KS,突出了COL18A1基因.

科学领域:

眼科和遗传学眼科和遗传学
罕见的遗传疾病罕见的遗传疾病
分子诊断学分子诊断

背景情况:

诺布洛克综合征1 (KS) 是一种自体逆性遗传性眼部疾病.
它的特征是高近视,玻璃网膜退化和头脑.
由COL18A1基因的致病变体引起,由于临床异质性,诊断可能具有挑战性.

研究的目的:

为了在新型家族中分子证实Knobloch综合征1 (KS).
识别和分析与KS相关的COL18A1基因中的致病变体.
为了进一步了解KS的基因型-表型关系.

主要方法:

综合眼科检查 (临床和仪器).
整体外组测序,桑格测序和分离分析.
对受影响家庭的评估.

主要成果:

两个新的家庭被诊断出KS,呈现出高近视,低视敏度,胆管缩和尾缺陷.
在受影响个体中鉴定了复合异构性COL18A1变体,包括已知的40元突变中的2bp缺失.
观察到连接组织发育不良和某些情况下的特征KS三位一体;没有发现一致的神经表现或基因型-表型趋势.

结论:

在两个新家族中,KS的分子确认,扩大了对致病性COL18A1变体的理解.
一致识别特定的COL18A1删除突显了它在KS中的重要性.
现型异质性表明,除了COL18A1变种之外,还有其他遗传或环境因素的影响.

关键词:

在 COL18A1 中使用.诺布洛奇综合征是什么意思诺布洛奇综合征结合组织发育不良结合组织发育不良短视近视近视近视近视近视近视近视近头后脑脑的脑.玻璃甲状腺缩玻璃甲状腺缩

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