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Peer-reviewedCC BYFrontiers in genetics

Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant.

  • Xiaohua Ge1
  • Wencong Li1
  • Hong Wei1
  • Meijuan Liu2
  1. 1School of Medical Imaging, Shandong Medical And Pharmaceutical University, Yantai, Shandong, China.
  2. 2Department of Ultrasound Medicine, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China.
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Abstract

Congenital dislocation of the knee (CDK) is a rare malformation that severely affects the quality of life of affected fetuses and imposes a heavy burden on families and society. Its etiology remains unclear and may be related to genetic factors, quadriceps atrophy, muscular nutritional imbalance, and intrauterine factors. Here we report a case of CDK diagnosed prenatally by ultrasound in a 34-year-old pregnant woman at 25 weeks of gestation. Prenatal ultrasonography revealed knee hyperextension, abnormal hand morphology, and micrognathia. Exome sequencing identified a heterozygous mutation c.1613A>G (p.Tyr538Cys) in the BICD2 gene in the fetus, which was classified as likely pathogenic (PS2+PM2) according to American College of Medical Genetics and Genomics (ACMG) criteria. This variant is associated with autosomal dominant spinal muscular atrophy with lower extremity predominance type 2 (SMALED2). The prenatal ultrasound diagnosis was confirmed by autopsy after termination of pregnancy. This case expands the prenatal phenotypic spectrum of BICD2-related disorders by detailing the ultrasound features of CDK, highlights the diagnostic value of exome sequencing when fetal anomalies are detected prenatally, and is of great significance for the diagnosis of fetal congenital anomalies and the formulation of clinical management plans.

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Cite

BibTeXRIS
BibTeX
@article{ge2026case,
  title = {{Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant.}},
  author = {Xiaohua Ge and Wencong Li and Hong Wei and Meijuan Liu},
  journal = {Frontiers in genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1938741},
  url = {https://europepmc.org/article/MED/42948831},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant.
AU  - Xiaohua Ge
AU  - Wencong Li
AU  - Hong Wei
AU  - Meijuan Liu
PY  - 2026
DA  - 2026/10/14
JO  - Frontiers in genetics
DO  - 10.3389/fgene.2026.1938741
UR  - https://europepmc.org/article/MED/42948831
AB  - Congenital dislocation of the knee (CDK) is a rare malformation that severely affects the quality of life of affected fetuses and imposes a heavy burden on families and society. Its etiology remains unclear and may be related to genetic factors, quadriceps atrophy, muscular nutritional imbalance, and intrauterine factors. Here we report a case of CDK diagnosed prenatally by ultrasound in a 34-year-old pregnant woman at 25 weeks of gestation. Prenatal ultrasonography revealed knee hyperextension, abnormal hand morphology, and micrognathia. Exome sequencing identified a heterozygous mutation c.1613A>G (p.Tyr538Cys) in the BICD2 gene in the fetus, which was classified as likely pathogenic (PS2+PM2) according to American College of Medical Genetics and Genomics (ACMG) criteria. This variant is associated with autosomal dominant spinal muscular atrophy with lower extremity predominance type 2 (SMALED2). The prenatal ultrasound diagnosis was confirmed by autopsy after termination of pregnancy. This case expands the prenatal phenotypic spectrum of BICD2-related disorders by detailing the ultrasound features of CDK, highlights the diagnostic value of exome sequencing when fetal anomalies are detected prenatally, and is of great significance for the diagnosis of fetal congenital anomalies and the formulation of clinical management plans.
SN  - 1664-8021
ER  -