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Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping.

Aging - 27 Nov 2021

Zhou Yao, Yang Xiaohui, Liu Zheng, Zhang Yu, Chen Huaye, Zhang Yongfang, Hu Yuxin, Ma Yanlin, Li Qi

Abstract excerpt

Fraser syndrome is a rare autosomal recessive malformation disorder. It is characterized by cryptophthalmos, syndactyly, urinary tract abnormalities and ambiguous genitalia. This condition is due to homozygous or heterozygous mutations in the FRAS1, FREM1, FREM2, and GRIP1 genes. In the present study, we recruited a Chinese family with Fraser syndrome. Two novel mutations c.7542_7543insG and c.2689C>T in the...

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Identifiers

PMID: 34837691
DOI: 10.18632/aging.203715
PMCID: PMC8660615

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