文献标题：Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
文献出处：The Journal of clinical endocrinology and metabolism. 2010 Nov;95(11):E363-7. Epub 2010 Jul 28.
期刊影响因子：6.202
纯合子
胰岛素样生长因子1基因（以下简称IGF-I）的缺失或突变可导致严重的身材矮小、耳聋、小颅畸形和智力低下。杂合子IGF-I缺失可能会使身高和头围有所下降。
近日，有学者通过对携带突变基因的两位儿童、他们的母亲和外祖父以及两名不携带突变基因的亲戚，进行了在矮小症家族的携带者与非携带者相比，关于IGF-I新型突变杂合子携带者的临床特点、人
生长激素疗效的探讨。 研究结果发现两名先证者患有严重身材矮小症（身高SD评分分别为4.1和4.6）、小颅畸形及IGF-I水平低。IGF1测序发现杂合子四类核苷酸复制，导致移码和密码子提前终止。研究对象中母亲和外祖父也存在相同的IGF-I突变。父系遗传突变携带者成人身高（校正萎缩和长期趋势）和头围SD评分分别为–2.5 和–1.8，非携带者分别为–1.6 和0.3。2年生长激素治疗后，两组研究对象均呈现出加速生长现象。
研究者认为，与母亲突变基因相同的儿童体内，IGF-I新型杂合突变基因可能与其他引起身材矮小的遗传因素联合作用，导致了严重身材矮小，但可以用生长激素成功进行治疗。
医脉通推荐英文摘要
The Journal of clinical endocrinology and metabolism. 2010 Nov;95(11)
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.
van Duyvenvoorde HA, van Setten PA, Walenkamp MJ, van Doorn J, Koenig J, Gauguin L, Oostdijk W, Ruivenkamp CA, Losekoot M, Wade JD, De Meyts P, Karperien M, Noordam C, Wit JM.
Context: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.
Objective: The objective of the study was to investigate the clinical features of heterozygous carriers of a novel mutation in the IGF1 gene in comparison with noncarriers in a short family and to establish the effect of human GH treatment.
Subjects: Two children, their mother, and their maternal grandfather carried the mutation and were compared with two relatives who were noncarriers.
Results: The two index cases had severe short stature (height sd score -4.1 and -4.6), microcephaly, and low IGF-I levels. Sequencing of IGF1 revealed a heterozygous duplication of four nucleotides, resulting in a frame shift and a premature termination codon. The mother and maternal grandfather had the same IGF1 mutation. Adult height (corrected for shrinking and secular trend) and head circumference sd score of carriers of the paternally transmitted mutation was -2.5 and -1.8, in comparison with -1.6 and 0.3 in noncarriers, respectively. After 2 yr of GH treatment, both index cases exhibited increased growth.
Conclusions: Heterozygosity for this novel IGF1 mutation in children born from a mother with the same mutation, presumably in combination with other genetic factors for short stature, leads to severe short stature, which can be successfully treated with GH.
文献来源
van Duyvenvoorde HA et al.Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.Journal of clinical endocrinology and metabolism. 2010 ;95(11):363-367.[PubMed链接|期刊链接]
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