Fusco Carmela, Nittis Pasquelena De, Alfaiz Ali Abdullah, Pellico Maria Teresa, Augello Bartolomeo, Malerba Natascia, Zelante Leopoldo, Reymond Alexandre, Merla Giuseppe
Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
J Pediatr Genet. 2017 Jun;6(2):98-102. doi: 10.1055/s-0036-1588029. Epub 2016 Aug 31.
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait. Here, we present a family with three members affected by SHFLD harboring duplication. We exploited in vitro differentiation system to promote proband's skin fibroblasts toward osteoblastic lineage, and we observed a slight but consistent delay in the mineralization pattern. This result possibly suggests an impairment of the osteogenic process in the affected members.
伴有长骨缺损的裂手/裂足畸形（SHFLD）是一种先天性肢体异常，其手部和/或足部的裂缺和并指（趾）与长骨缺陷相关，通常累及胫骨。先前发表的数据报道，17号染色体短臂13.3区域的重复，包括该基因，与一种名为SHFLD3（OMIM 612576）的独特病症相关，其遗传方式为常染色体显性遗传。在此，我们报告了一个有三名成员受SHFLD影响且存在该重复的家系。我们利用体外分化系统促使先证者的皮肤成纤维细胞向成骨细胞谱系分化，并且我们观察到矿化模式存在轻微但一致的延迟。这一结果可能提示受累成员的成骨过程存在损害。
