Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome.
Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome.
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DOI：
10.1016/j.heliyon.2021.e07804
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发表时间：
2021-08
期刊：
影响因子：
4
通讯作者：
Komatsu N
中科院分区：
文献类型：
--
作者：
Kinoshita S;Ando M;Ando J;Ishii M;Furukawa Y;Tomita O;Azusawa Y;Shirane S;Kishita Y;Yatsuka Y;Eguchi H;Okazaki Y;Komatsu N
Trio-next generation测序可用于识别未诊断的遗传性疾病。我们已经参加了三基因ADH 5/ALDH 2/ADGRV 1致病性变异，导致两种不同的疾病，骨髓增生异常综合征和Usher综合征的患者。对患者及其父母的外周血进行全基因组测序，以确定致病基因。进行桑格测序以验证鉴定的ADH 5/ALDH 2/ADGRV 1变体。我们的研究结果确定了ADGRV 1（疾病遗传常染色体隐性遗传）和ADH 5（疾病遗传也常染色体隐性遗传）的疾病相关变体以及ALDH 2（疾病遗传常染色体显性遗传）的变体。虽然已经报道了在ADH 5和ALDH 2中鉴定的变体，但它们与第三基因中的致病变异的共存还没有。它们拓宽了Usher综合征中ADGRV 1的谱。下一代测序的发现指导了快速准确的诊断，从而实现了患者量身定制的治疗干预。在骨髓增生异常综合征伴Usher综合征中鉴定了ADH 5/ALDH 2/ADGRV 1三基因变异体。描述了两种新的致病性移码变异ADGRV 1的复合杂合状态与Usher综合征II型。下一代测序的发现指导了快速准确的诊断，从而实现了为患者量身定制的治疗。ADH 5/ALDH/ADGRV 1变体，骨髓增生异常综合征，三基因突变，Trio-next generation测序，Usher综合征。
Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome. Whole genome sequencing of peripheral blood from the patient and his parents were applied to identify disease-causing genes. Sanger sequencing was performed to validate the identified ADH5/ALDH2/ADGRV1 variants. Our results identified disease-associated variants in ADGRV1 (disease inheritance autosomal recessive) and in ADH5 (disease inheritance also autosomal recessive) and a variant in ALDH2 (disease inheritance autosomal dominant). Although the variants identified in ADH5 and ALDH2 have been reported, their co-existence in association with disease-causing variation in a third gene has not. They broaden the spectrum of ADGRV1 in Usher syndrome. Findings on next generation sequencing guided rapid and accurate diagnosis, resulting in patient-tailored therapeutic intervention. Trigenic ADH5 / ALDH2 / ADGRV1 variants in myelodysplastic syndrome with Usher syndrome were identified. Two novel pathogenic frameshift variants in ADGRV1 in compound heterozygous state with Usher syndrome type II were described. Findings on next generation sequencing guided rapid and accurate diagnosis, resulting in patient-tailored therapy. ADH5/ALDH/ADGRV1 variants, Myelodysplastic syndrome, Trigenic mutations, Trio-next generation sequencing, Usher syndrome.
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DOI：
10.1016/j.bbadis.2014.11.020
发表时间：
2015-03
影响因子：
6.2
作者：
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通讯作者：
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影响因子：
4.5
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影响因子：
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作者：
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DOI：
10.1159/000016167
发表时间：
1998-01-01
期刊：
Community genetics
影响因子：
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作者：
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通讯作者：
Najera, C
影响因子：
64.8
作者：
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通讯作者：
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