Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.Asp1320delinsValTer) and c.5825C#x3e;T (p.Ala1942Val) in the ATM gene in a Peruvian patient with progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein, without history of recurrent infection or immunodeficiency. We also determined the carrier status of the family members, and we were able to detect gastric and breast cancer at an early stage during the cancer risk assessment in the mother (c.3955_3958dup). Here, we describe clinical evidence for the novel compound heterozygous mutation and c.3955_3958dup not previously reported.
Mol Syndromol

中文翻译：

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ATM 基因中的新型复合杂合突变 c.3955_3958dup 和 c.5825C>T：秘鲁家庭共济失调-毛细血管扩张和癌症的临床证据

ATM基因中的致病性和可能致病性变异与共济失调-毛细血管扩张症或 ATM 综合征以及杂合子携带者的癌症风险增加有关。我们在ATM中发现了一个新的复合杂合突变 c.3955_3958dup (p.Asp1320delinsValTer) 和 c.5825C#x3e;T (p.Ala1942Val)一位患有进行性共济失调合并其他运动障碍、轻度结膜毛细血管扩张和甲胎蛋白升高的秘鲁患者的基因，没有反复感染或免疫缺陷病史。我们还确定了家庭成员的携带者状态，并且我们能够在母亲 (c.3955_3958dup) 的癌症风险评估过程中及早发现胃癌和乳腺癌。在这里，我们描述了以前未报道的新型复合杂合突变和 c.3955_3958dup 的临床证据。
分子综合征