The V-MYC avian myelocytomatosis viral-related onco- gene, a neuroblastoma-derived gene （MYCN, MIM： 164840） located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1 （FGLDS1, MIM：...The V-MYC avian myelocytomatosis viral-related onco- gene, a neuroblastoma-derived gene （MYCN, MIM： 164840） located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1 （FGLDS1, MIM： 164280） [1]. FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disabilities. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients [2]. Despite the involvement of intellectual disability in FGLDS1, the molecular mechanisms of the MYCN gene in regulating brain development remain largely unclear.Some truncated mutations in the N terminus of the MYCN have been identified in FGLDS1 [1, 3].展开更多
基金supported by grants from the National Natural Science Foundation of China(81701494)the Shanghai Municipal Commission of Health and Family Planning(2013ZYJB0015)the Science and Technology Commission of Shanghai Municipality(14411950402)
文摘The V-MYC avian myelocytomatosis viral-related onco- gene, a neuroblastoma-derived gene （MYCN, MIM： 164840） located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1 （FGLDS1, MIM： 164280） [1]. FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disabilities. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients [2]. Despite the involvement of intellectual disability in FGLDS1, the molecular mechanisms of the MYCN gene in regulating brain development remain largely unclear.Some truncated mutations in the N terminus of the MYCN have been identified in FGLDS1 [1, 3].
