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Published on: November 25, 2012
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome
Nobuhiro Suzumori1, Tadashi Kaname, Yukako Muramatsu
1Departments of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya.
Abstract:
Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.
Insights
Prenatal diagnosis identified Lenz microphthalmia syndrome in a male fetus. This confirmed the recurrent BCOR gene mutation, enabling informed parental decisions.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Lenz microphthalmia syndrome is an X-linked recessive disorder characterized by severe eye malformations, intellectual disability, and skeletal anomalies.
- A specific missense mutation in the BCOR gene (c.254C>T, p.P85L) has been linked to Lenz microphthalmia syndrome.
Observation:
- A Japanese woman at 15 weeks gestation underwent prenatal diagnosis due to the risk of X-linked recessive Lenz microphthalmia syndrome.
- Fetal karyotyping revealed a 46,XY karyotype, and subsequent genetic analysis of amniotic cells detected the specific BCOR c.254C>T mutation.
Findings:
- This case represents the third report of the BCOR c.254C>T mutation associated with X-linked syndromic microphthalmia, highlighting its consistent role.
- The prenatal diagnosis confirmed Lenz microphthalmia syndrome in the male fetus.
Implications:
- Prenatal genetic diagnosis of Lenz microphthalmia syndrome facilitates timely genetic counseling and delivery planning for affected families.
- Early identification of this specific BCOR mutation aids in understanding the genetic basis of syndromic microphthalmia and provides reproductive options.
