Janchevska Aleksandra, Dimovski Aleksandar, Mironska Kristina, Tasic Velibor, Gucev Zoran
University Children's Hospital, Faculty of Medicine, Ss Cyril and Methodius University of Skopje, Skopje, Republic of Macedonia.
Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Open Access Maced J Med Sci. 2018 Jun 13;6(5):790-793. doi: 10.3889/oamjms.2018.209. eCollection 2018 May 20.
Small for gestational age children (SGA) is born on term with BW and or BL of -2.0 standard deviation score (SDS). SGA children have an increased risk of being short, developing DM, and cardiovascular and cerebrovascular disease. Often defects of are the cause of SGA. Most frequently affected part of the IGF1R gene is the exon 2.
To investigate whether the exon 2 of the gene is affected in the SGA children.
A cohort of 100 SGA children born in term was evaluated for alterations in gene. Their anthropometric parameters, IGF1 serum concentrations and IGF1 SDS values were analysed. The molecular analysis of IGF1R gene was performed by PCR restriction-site analysis and followed by direct sequencing of conspicuous fragments.
Within our cohort, 64 SGA children were with short stature (height SDS -3.25 ± 0.90 SDS), and 36 were with normal height for their age and sex, (H SDS was 0.20 ± 1.1 SDS). None of these children had microcephaly (occipitofrontal circumference -0.70 ± 1.01 SDS vs 0.06 ± 0.56 SDS in SGA children with normal height) or dysmorphic features. The IGF1 serum concentrations and IGF1 SDS values of all children were within normal range. Only one child had lower normal serum IGF1 concentration. No alterations in exon 2 of gene were detected.
The genetic analysis of the exon 2 of the gene did not detect any gene defects in the analysed patients. The putative genetic defect in those children affects other parts of the gene or another gene (s), or yet unidentified factors.
小于胎龄儿（SGA）是指足月出生时体重和/或身长低于-2.0标准差评分（SDS）的儿童。SGA儿童身材矮小、患糖尿病以及心血管和脑血管疾病的风险增加。先天性缺陷通常是SGA的病因。胰岛素样生长因子1受体（IGF1R）基因最常受影响的部分是外显子2。
研究SGA儿童中IGF1R基因的外显子2是否受到影响。
对100名足月出生的SGA儿童队列进行IGF1R基因改变的评估。分析了他们的人体测量参数、血清IGF1浓度和IGF1 SDS值。通过PCR限制性位点分析对IGF1R基因进行分子分析，随后对明显片段进行直接测序。
在我们的队列中，64名SGA儿童身材矮小（身高SDS为-3.25±0.90 SDS），36名儿童的身高与其年龄和性别相符（身高SDS为0.20±1.1 SDS）。这些儿童均无小头畸形（枕额周长为-0.70±1.01 SDS，而身高正常的SGA儿童为0.06±0.56 SDS）或畸形特征。所有儿童的血清IGF1浓度和IGF1 SDS值均在正常范围内。只有一名儿童的血清IGF1浓度略低于正常范围。未检测到IGF1R基因外显子2的改变。
对IGF1R基因外显子2的基因分析未在分析的患者中检测到任何基因缺陷。这些儿童中假定的基因缺陷影响IGF1R基因的其他部分或另一个基因，或尚未确定的因素。
