A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies |
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| Authors: | Lucia Pedace Marco Castori Francesco Binni Alberto Pingi Barbara Grammatico Salvatore Scommegna Silvia Majore Paola Grammatico |
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| Affiliation: | 1. Paediatric Endocrinology Unit, “Cardarelli” Hospital, Campobasso, Italy;2. Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK;3. Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy;4. NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK;5. Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University “Aldo Moro”, Bari, Italy;6. Department of Medicine and Health Sciences, Section of Endocrinology, University of Molise, Campobasso, Italy;1. Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany;2. Institut für Humangenetik, Universitätsklinikum, Leipziger Str. 44, 39120 Magdeburg, Germany;1. Heart Center, Beijing Chao Yang Hospital, Capital Medical University, Beijing, China;2. Department of Cardiology, Peking University People''s Hospital, Beijing, China;3. Department of Cardiology, Tangshan Gong Ren Hospital, Tangshan, Hebei, China |
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| Abstract: | Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10–15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions. |
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