CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1575378
Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report
Provisionally accepted
Yongmei Shen1,2
Lei Zhang1,2
Yaqi Li3Liying Yao1,2
Jiasong Cao1,2
Qimei Lin1,2Maolin Nie3Hefei Wang3Rongxin Wei3
Ying Chang1,2,3,4*- 1Tianjin Key Laboratory of Human Development and Reproductive Regulation/Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Gynecology Obstetrics, Tianjin 300100, China, Tianjin, China
- 2Nankai University Affiliated Maternity Hospital, Tianjin 300100, China, Tianjin, China
- 3Obstetrics and Gynecology, Tianjin Medical University, Tianjin, China
- 4Medical School, Tianjin University, Tianjin, China
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Renpenning syndrome is a rare X-linked genetic disorder caused by variants in the PQBP1 gene, but the information about its prenatal presentation is very limited. A 35-year-old woman experienced two male pregnancies with thickened nuchal translucency (NT) (5.5 mm and 5 mm). She went to our prenatal diagnosis center for the current natural conception during the second pregnancy. Trio-whole exome sequencing(TrioWES) of chorionic villus biopsy revealed a 666-bp genetic deletion(chrX:48755195-49760422) in the fetus, inherited from the mother, which included TIMM17B and PQBP1. The couple opted for termination of pregnancy. During the third pregnancy, systematic fetal screening was performed in early pregnancy. An ultrasound examination at 12+1 weeks revealed a thickened NT (6.5 mm), nasal bones abnormalities and a cleft palate. Ultrasound examination at 16 weeks showed ventricular septal defect(VSD), and mild enlargement of the lateral ventricles in the fetus. Chorionic villus biopsy samples were tested for Multiplex Ligation-dependent Probe Amplification (MLPA), showing a 666-bp genetic deletion, inherited from the mother. The couple opted for termination of pregnancy, and the male fetus had a sunken nose and cup-shaped ears leading to a diagnosis of Renpenning syndrome. In conclusion, this emphasized the importance of early systematic pregnancy screening. Increased NT in the first trimester, especially when present in conjunction with ultrasound structural abnormalities such as nasal bone abnormalities, VSD, and mild bilateral ventriculomegaly, emphasized the importance of genetic testing, including chromosome testing, genomic testing, and Whole-exome sequencing.
Keywords: Pqbp1, Renpenning syndrome, Nuchal translucency, ultrasound, Prenatal Diagnosis
Received: 14 Feb 2025; Accepted: 10 Jul 2025.
Copyright: © 2025 Shen, Zhang, Li, Yao, Cao, Lin, Nie, Wang, Wei and Chang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ying Chang, Tianjin Key Laboratory of Human Development and Reproductive Regulation/Tianjin Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Gynecology Obstetrics, Tianjin 300100, China, Tianjin, China
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