Martín-Rivada Álvaro, Rodríguez-Contreras Francisco Javier, Muñoz-Calvo Mª Teresa, Güemes María, González-Casado Isabel, Del Pozo Jaime Sánchez, Campos-Barros Ángel, Argente Jesús
Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain.
Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Growth Horm IGF Res. 2019 Feb;44:17-19. doi: 10.1016/j.ghir.2018.12.002. Epub 2018 Dec 18.
We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene.
A male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel.
A heterozygous frameshift mutation, NM_005270.4:c.2125del, p.(Leu709Trpfs*15), was identified in GLI2 exon 12. This mutation has not been previously reported and confirms the diagnosis of Culler-Jones syndrome (MIM #615849).
GLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly.
我们报告了一种新的GLI2移码突变，并描述了该基因内突变的表型谱。
对一名患有先天性垂体功能减退和多畸形综合征的男性进行了临床、生化和神经放射学特征分析。使用靶向NGS定制基因panel对先天性垂体功能减退进行基因分析。
在GLI2外显子12中鉴定出一个杂合移码突变，NM_005270.4:c.2125del，p.(Leu709Trpfs*15)。该突变此前未被报道，证实了卡勒-琼斯综合征（MIM #615849）的诊断。
在存在先天性垂体功能减退、特征性面部异常和多指畸形的情况下，应怀疑GLI2突变。
