title: Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
abstract: Lenz microphthalmia syndrome and oculo-facio-cardio-dental syndrome (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and intellectual disability. We report a seven-month-old boy with congenital glaucoma, complex cardiac defect, dextrocardia and cerebral white matter hypoplasia suggestive of Lenz microphthalmia/OFCD syndrome. Molecular testing revealed a novel missense mutation (c.G1619A; p.R540Q) in BCOR. This boy might be the third male patient with a BCOR mutation based on literature search. Previously, Xenopus studies showed that BCOR is required for vertebrate laterality determination. Our finding provides additional support that the manifestations of defective lateral patterning and dextrocardia are associated with Lenz microphthalamia/OFCD syndrome.
authors.affiliation: Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, Changsha, Hunan Province 410008, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Zhu
authors.affiliation: Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, Changsha, Hunan Province 410008, China.
authors.forename: Fu-Rong
authors.initials: FR
authors.lastname: Dai
authors.affiliation: Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province 410011, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, Changsha, Hunan Province 410008, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province 410011, China.
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Tan
authors.affiliation: Department of Gynecology and Obstetrics, Xiangya Hospital of Central South University, Changsha, Hunan Province 410008, China. Electronic address: zhangy5588@126.com.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000595:Amino Acid Sequence; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D006343:Heart Septal Defects / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins
keywords: BCL-6 interacting repressor; Congenital heart defect; Dextrocardia; LMS; Lenz microphthalmia syndrome; OFCD syndrome