Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.
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同时鉴定中国色素性视网膜炎家系中的 MFSD8 和 RDH12 致病变异
DOI：
10.3389/fgene.2021.715100
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发表时间：
2021
影响因子：
3.7
通讯作者：
Wu L
中科院分区：
文献类型：
--
作者：
Wang Y;Teng Y;Liang D;Li Z;Wu L
视网膜色素变性（RP）的特点是巨大的遗传和表型异质性。本文通过对一个RP家系的病因调查，为家庭的遗传和生殖咨询提供依据。虽然这位8+3周的孕妇表现为RP，但她的第一个婴儿出生时患有RP、癫痫和小脑萎缩。该研究在第一个孩子的MFSD 8基因中发现了一个复合杂合突变（c.998+3_998+6del/deletion），解释了先证者疾病的原因，而这不能解释母亲的疾病。RT-PCR结果显示，MFSD 8基因第10外显子存在跳读，而RDH 12基因第5内含子存在15个核苷酸的保留，突变位点为c.343+1G > A。两个独立的情况下，RP引起的不同的基因在一个家系的共存证明。根据诊断，对胎儿进行的产前诊断发现，胎儿的MFSD 8受到与先证者相同的突变的影响。该研究强调了RP的复杂性以及广泛的分子遗传测试和临床表征相结合的必要性，此外还扩大了MFSD 8突变的范围。最后，预计将防止家庭成员生育患有类似疾病的子女。
Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for genetic and reproductive counseling for families. Although this pregnant woman of 8+3 weeks presented with RP, her first baby was born with RP, epilepsy, and cerebellar atrophy. The research identified a compound heterozygous mutation (c.998+3_998+6del/deletion) in the MFSD8 gene of the first born, explaining the cause of the proband’s disease, which cannot explain the mother’s. Then, a homozygous mutation c.343+1G > A in RDH12 of the mother was found. RT-PCR is employed to find that there is a skipping of exon 10 in MFSD8 and a 15-nucleotide retention of intron5 in RDH12. The coexistence of two independent instances of RP caused by distinct genes in one pedigree is demonstrated. Based on the diagnosis, a prenatal diagnosis performed on the fetus found that the fetus’s MFSD8 is affected by the same mutation as the proband. The research underscoring the complexity of RP and the need for the combination of extensive molecular genetic testing and clinical characterization in addition expands the spectrum of MFSD8 mutations. Finally, it is expected that the family members would be prevented from reproducing children with the similar disease.
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影响因子：
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作者：
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通讯作者：
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DOI：
10.1097/iae.0000000000002242
发表时间：
2019-10-01
影响因子：
3.3
作者：
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通讯作者：
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