一个新的 KLF11 c.793G>A (p.Glu265Lys) 变异在中国 MODY7 家族中被发现，但其与 MODY7 的关联存在争议。
A Novel KLF11 c.793G>A (p.Glu265Lys) Variant Identified in a Chinese Family with Controversial Association with MODY7.
出版信息
Clin Lab. 2024 Aug 1;70(8). doi: 10.7754/Clin.Lab.2024.240241.
BACKGROUND
Krüppel-like 11 factor (KLF11) gene mutation has been implicated in the pathogenesis of maturity onset diabetes of the young type 7 (MODY7). Recently, this potential correlation has been questioned, suggesting the need for more comprehensive diagnostic approaches.
METHODS
The proband is a 30-years-old male who underwent next-generation sequencing (NGS). This was followed by whole-exon sequencing of the proband and his parents to screen for KLF11 variants.
RESULTS
A heterozygous KLF11 mutation c.793G>A (p.Glu265Lys) was identified in the proband and his non-diabetic mother.
CONCLUSIONS
The novel KLF11 mutation documented in this study might exhibit incomplete penetrance in relation to impaired glucose tolerance, which could also contribute to the argument against the necessity of including KLF11 genetic testing for MODY diagnosis.
背景
Krüppel 样因子 11 基因（KLF11）突变与青年发病的成年型糖尿病 7 型（MODY7）的发病机制有关。最近，这种潜在的相关性受到了质疑，这表明需要更全面的诊断方法。
方法
先证者为 30 岁男性，接受了下一代测序（NGS）。随后对先证者及其父母进行了外显子组测序，以筛选 KLF11 变异。
结果
在先证者及其非糖尿病母亲中发现了杂合的 KLF11 突变 c.793G>A（p.Glu265Lys）。
结论
本研究中记录的新型 KLF11 突变与葡萄糖耐量受损相关，可能表现出不完全外显率，这也有助于反对将 KLF11 基因检测纳入 MODY 诊断的必要性的论点。
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