Fig. 1
From: Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
(A) Prenatal ultrasound of the proband with polycystic kidney dysplasia at 16 weeks. (B) Prenatal ultrasound of the proband with encephalocele at 16 weeks. (C) The pedigree of the family: the outcomes of the first and fourth pregnancies were spontaneous abortion, the second pregnancy gives birth to a healthy girl and the third and fifth pregnancies lead to multiple malformations (polycystic kidney dysplasia, oligohydramnios and encephalocele). (D) Sanger sequence chromatogram of TMEM67 gene. Sanger sequencing showed that c.1415T > G (p.V472G) was heterozygous in the proband (II5) and father (I1), and c.2314del (p.M772*) was heterozygous in the proband (II5) and mother (I2). c.1415T > G (p.V472G) was not detected in mother and c.2314del (p.M772*) was not detected in father. Both variants were not detected in the sister (II2). (E) CNV-seq results of autosomal chromosomes in the proband. (F) CNV-seq results of X chromosome in the proband