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A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-09-12 , DOI: 10.1038/s41439-019-0076-4 Yoel Hirsch 1 , David A Zeevi 2 , Byron L Lam 3 , Sholem Y Scher 1 , Rachel Bringer 2 , Bitya Cherki 2 , Cadina C Cohen 2 , Hagit Muallem 2 , John Pei-Wen Chiang 4 , Madhulatha Pantrangi 5 , Josef Ekstein 1 , Martin M Johansson 1
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-09-12 , DOI: 10.1038/s41439-019-0076-4 Yoel Hirsch 1 , David A Zeevi 2 , Byron L Lam 3 , Sholem Y Scher 1 , Rachel Bringer 2 , Bitya Cherki 2 , Cadina C Cohen 2 , Hagit Muallem 2 , John Pei-Wen Chiang 4 , Madhulatha Pantrangi 5 , Josef Ekstein 1 , Martin M Johansson 1
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Congenital stationary night blindness (CSNB) is a disease affecting the night vision of individuals. Previous studies identified TRPM1 as a gene involved in reduced night vision. Homozygous deletion of TRPM1 was the cause of CSNB in several children in 6 Ashkenazi Jewish families, thereby prompting further investigation of the carrier status within the families as well as in large cohorts of unrelated Ashkenazi and Sephardi individuals. Affected children were tested with a CSNB next-generation (NextGen) sequencing panel. A deletion of TRPM1 exons 2 through 7 was detected and confirmed by PCR and sequence analysis. A TaqMan-based assay was used to assess the frequency of this deletion in 18266 individuals of Jewish descent. High-throughput amplicon sequencing was performed on 380 samples to determine the putative deletion-flanking founder haplotype. Heterozygous TRPM1 deletions were found in 2.75% (1/36) of Ashkenazi subjects and in 1.22% (1/82) individuals of mixed Ashkenazi/Sephardic origin. The homozygous deletion frequency in our data was 0.03% (1/4025) and was only found in Ashkenazi Jewish individuals. Homozygous deletion of exons 2-7 in TRPM1 is a common cause of CSNB and myopia in many Ashkenazi Jewish patients. This deletion is a founder Ashkenazi Jewish deletion.
中文翻译：
与先天性静止性夜盲和近视有关的TRPM1基因的建立者缺失在阿什肯纳兹犹太人中非常普遍。
先天性静止型夜盲症（CSNB）是一种影响个体夜视的疾病。先前的研究将TRPM1鉴定为夜视力下降的相关基因。纯合子TRPM1缺失是6个Ashkenazi犹太家庭的几名儿童CSNB的病因，从而促使人们进一步调查家庭中以及与Ashkenazi和Sephardi无关的大批人中携带者的状况。受影响的儿童接受了CSNB下一代（NextGen）测序小组的测试。检测并通过PCR和序列分析确认TRPM1外显子2至7的缺失。基于TaqMan的分析用于评估18266名犹太人后裔中这种缺失的频率。对380个样品进行高通量扩增子测序，以确定推定的缺失侧翼建立者单倍型。在Ashkenazi受试者的2.75％（1/36）和Ashkenazi / Sephardic混合血统的1.22％（1/82）的个体中发现杂合子TRPM1缺失。在我们的数据中，纯合子缺失频率为0.03％（1/4025），仅在Ashkenazi犹太人身上发现。在许多Ashkenazi犹太人患者中，TRPM1中2-7号外显子的纯合缺失是CSNB和近视的常见原因。此删除是创始人Ashkenazi犹太删除。
更新日期：2019-09-12
中文翻译：
与先天性静止性夜盲和近视有关的TRPM1基因的建立者缺失在阿什肯纳兹犹太人中非常普遍。
先天性静止型夜盲症（CSNB）是一种影响个体夜视的疾病。先前的研究将TRPM1鉴定为夜视力下降的相关基因。纯合子TRPM1缺失是6个Ashkenazi犹太家庭的几名儿童CSNB的病因，从而促使人们进一步调查家庭中以及与Ashkenazi和Sephardi无关的大批人中携带者的状况。受影响的儿童接受了CSNB下一代（NextGen）测序小组的测试。检测并通过PCR和序列分析确认TRPM1外显子2至7的缺失。基于TaqMan的分析用于评估18266名犹太人后裔中这种缺失的频率。对380个样品进行高通量扩增子测序，以确定推定的缺失侧翼建立者单倍型。在Ashkenazi受试者的2.75％（1/36）和Ashkenazi / Sephardic混合血统的1.22％（1/82）的个体中发现杂合子TRPM1缺失。在我们的数据中，纯合子缺失频率为0.03％（1/4025），仅在Ashkenazi犹太人身上发现。在许多Ashkenazi犹太人患者中，TRPM1中2-7号外显子的纯合缺失是CSNB和近视的常见原因。此删除是创始人Ashkenazi犹太删除。
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