Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
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| 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.
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| Authors | Nobuhiro Suzumori, Tadashi Kaname, Yukako Muramatsu, Kumiko Yanagi, Kyoko Kumagai, Seiji Mizuno, Kenji Naritomi, Shinji Saitoh, Mayumi Sugiura-Ogasawara |
| Journal | The journal of obstetrics and gynaecology research (J Obstet Gynaecol Res) Vol. 39 Issue 11 Pg. 1545-7 (Nov 2013) ISSN: 1447-0756 [Electronic] Australia |
| PMID | 23815237 (Publication Type: Case Reports, Journal Article) |
| Copyright | © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology. |
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