Yang Yu, Huang Hui, Chen Ka, Yang Li, Xie Li-Ling, Xiong Ting, Wu Xian
Department of Endocrinology, Metabolism, and Genetics, Nanchang 330006, People's Republic of China.
J Genet. 2019 Mar;98.
Insulin-like growth factor receptor (IGF-1R) deficiency is a rare form of short stature, and is difficult to clinically diagnose. Targeted next-generation sequencing (NGS) allows for the rapid and inexpensive assessment of short stature. We identified mutations in the pedigree of a Chinese boy with severe short stature using targeted NGS; we then assessed the clinical characteristicsand evaluated the efficacy of growth hormone therapy. NGS analysis revealed a novel heterozygous missense mutation in exon3 (c.926C>T, p.S309L) of the type-I IGF-1R gene in the proband, which was inherited from the mother. The proband, mother and grandfather suffered from severe growth failure. After recombinant human growth hormone therapy, the patient's growth rate increased. The novel missensemutation in (c.926C > T, p.S309L) is associated with severe short stature in Chinese individuals. Targeted NGS may enable efficient diagnosis and genetic consultation of children with short stature.
胰岛素样生长因子受体（IGF-1R）缺乏症是一种罕见的身材矮小形式，临床诊断困难。靶向新一代测序（NGS）可实现对身材矮小的快速且低成本评估。我们使用靶向NGS在中国一名严重身材矮小的男孩家系中鉴定出突变；然后我们评估了临床特征并评估了生长激素治疗的疗效。NGS分析在先证者的I型IGF-1R基因外显子3（c.926C>T，p.S309L）中发现了一种新的杂合错义突变，该突变遗传自母亲。先证者、母亲和祖父均患有严重的生长发育迟缓。重组人生长激素治疗后，患者的生长速率增加。（c.926C>T，p.S309L）中的新错义突变与中国个体的严重身材矮小有关。靶向NGS可能有助于对身材矮小儿童进行高效诊断和遗传咨询。
