Case Report
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant
Table 1
Previously reported LEMD3 mutations.
| Point mutations | 94X | Buschke-Ollendorff syndrome [30] |
| (Missense/nonsense) | 457C > T | Osteopoikilosis [2] | 620X | Buschke-Ollendorff syndrome (present study) | 641X | Buschke-Ollendorff syndrome [4] | 1323C > A | Osteopoikilosis [28] | 1609C > T | Osteopoikilosis and Melorheostosis [2] | 1801G > T | Osteopoikilosis [8] | 1873C > T | Melorheostosis [39] | 1913T > A | Melorheostosis [8] | 2032C > T | Osteopoikilosis [25] | 2203C > T | Buschke-Ollendorff syndrome [1] | 2564G > A | Buschke-Ollendorff syndrome [29] |
| Insertions/deletions/duplications/indels | 332_333 insTC | Buschke-Ollendorff syndrome [28] | 830 dupA | Melorheostosis [8] | 1033ā1035 delGGGinsC | Osteopoikilosis [2] | 1185 dupT | Osteopoikilosis [2] | 1914 dupA | Buschke-Ollendorff syndrome [8] | 1941 +5delG | Osteopoikilosis [2] | 2154 dupA | Osteopoikilosis [2] | Entire gene deletion | Osteopoikilosis [2] |
| None | ā | Buschke-Ollendorff syndrome [47] |
| Splicing | IVS1 ds +1 G-A | Collagenoma [26] | IVS12 ds +1 G-A | Buschke-Ollendorff syndrome [48] |
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