Author:
Pang Jialun,Kong Fanjuan,Tang Wanglan,Xi Hui,Ma Na,Sheng Xiaoqi,Peng Ying,Liu Zhiyu
Abstract
Abstract
Background
Recurrent pregnancy loss (RPL) is a common pregnancy complication that brings great pain to pregnant women and their families. Genetic factors are an important cause reason of RPL. However, clinical research on monogenic diseases with recurrent miscarriage is insufficient.
Case presentation
Here we reported a Chinese family with RPL and genetic analysis of the abortion and parents. A paternally inherited heterozygous missense variant c.1415T > G (p.V472G) and a maternally inherited heterozygous nonsense variant c.2314del (p.M772*) in TMEM67 gene were identified by trio-exome sequencing. c.2314del (p.M772*) generated a premature stop codon and truncated protein, was classified as “pathogenic”. c.1415T > G (p.V472G) located in extra-cellular region, was classified as “likely pathogenic”. Biallelic variants in TMEM67 gene cause lethal Meckel syndrome 3, consistent with the proband’s prenatal phenotype.
Conclusion
The current study of the Chinese family expands the pathogenic variant spectrum of TMEM67 and emphasizes the necessity of exome sequencing in RPL condition.
Funder
Department of Science and Technology of Hunan Province
Hunan Provincial Health and Wellness Commission
Ruixin project of Hunan Provincial Maternal and Child Health Care Hospital
Publisher
Springer Science and Business Media LLC