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Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2019-02-14 , DOI: 10.1038/s10038-019-0568-6 Ling Wu 1 , Hua Chen 2 , Da Li 3 , Di Song 4 , Biaobang Chen 5 , Zheng Yan 1 , Qifeng Lyu 1 , Lei Wang 5 , Yanping Kuang 1 , Bin Li 1 , Qing Sang 5
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2019-02-14 , DOI: 10.1038/s10038-019-0568-6 Ling Wu 1 , Hua Chen 2 , Da Li 3 , Di Song 4 , Biaobang Chen 5 , Zheng Yan 1 , Qifeng Lyu 1 , Lei Wang 5 , Yanping Kuang 1 , Bin Li 1 , Qing Sang 5
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Oocyte maturation arrest results in primary female infertility, but the genetic etiology of this phenotype remains largely unknown. Previously, we and other groups have reported that biallelic mutations in PATL2 are mainly responsible for human oocyte germinal vesicle-stage arrest and that the specific phenotype varies for different mutations. Here, we identified four novel missense mutations (p.V260M, p.Q300*, p.T425P, and p.D293Y), a novel frameshift mutation (p.N239Tfs*9), and a reported splicing mutation (p.R75Vfs*21) in PATL2 in seven affected individuals from five unrelated families, showing a multiplicity of phenotypes in oocyte maturation arrest, fertilization failure, or embryonic developmental arrest, which further expands the mutational and phenotypic spectrum in patients with PALTL2 mutations. This work further indicates the critical role of PATL2 in oocyte maturation and early embryo development and will provide a basis for pursuing the determination of genetic variation in PALT2 as an additional criterion for evaluating the quality of oocytes and embryos for assisted reproduction techniques.
中文翻译：
PATL2中的新突变：扩大突变谱和与女性不育症相关的表型变异。
卵母细胞成熟停滞导致原发性女性不育，但该表型的遗传病因学仍十分未知。以前，我们和其他研究小组已经报道，PATL2中的双等位基因突变主要负责人卵母细胞生发囊泡期停滞，并且特定表型因不同的突变而异。在这里，我们确定了四个新的错义突变（p.V260M，p.Q300 *，p.T425P和p.D293Y），一个新的移码突变（p.N239Tfs * 9）和一个已报道的剪接突变（p.R75Vfs * 21）在来自五个无关家庭的七个受影响个体中的PATL2中，显示了卵母细胞成熟停滞，受精失败或胚胎发育停滞的多种表型，这进一步扩大了PALTL2突变患者的突变和表型谱。
更新日期：2019-02-14
中文翻译：
PATL2中的新突变：扩大突变谱和与女性不育症相关的表型变异。
卵母细胞成熟停滞导致原发性女性不育，但该表型的遗传病因学仍十分未知。以前，我们和其他研究小组已经报道，PATL2中的双等位基因突变主要负责人卵母细胞生发囊泡期停滞，并且特定表型因不同的突变而异。在这里，我们确定了四个新的错义突变（p.V260M，p.Q300 *，p.T425P和p.D293Y），一个新的移码突变（p.N239Tfs * 9）和一个已报道的剪接突变（p.R75Vfs * 21）在来自五个无关家庭的七个受影响个体中的PATL2中，显示了卵母细胞成熟停滞，受精失败或胚胎发育停滞的多种表型，这进一步扩大了PALTL2突变患者的突变和表型谱。
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