PDF(Pubmed)
Abstract：
Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead, body asymmetry, and feeding problems. The diagnosis of SRS is based on a combination of clinical features. Up to 60% of SRS patients have chromosome 7 or 11 abnormalities, and <1% show abnormalities in IGF2 signaling pathway genes (IGF2, HMGA2, PLAG1 and CDKN1C). The underlying genetic cause remains unknown in about 40% of cases (idiopathic SRS). We report a novel IGF2 variant c.[-6-2A>G] (NM_000612) in a child with severe IUGR and clinical features of SRS and confirm the utility of targeted exome sequencing in patients with negative results to common genetic analyses. In addition, we report that long-term growth hormone treatment improves height SDS in this patient.
摘要：
银-罗素综合征（SRS，OMIM,180860）是一种罕见的遗传性疾病，具有广泛的症状。最常见的特征是宫内发育迟缓（IUGR），产后发育不良，大头畸形,三角形的脸,突出的前额,身体不对称，和喂养问题。SRS的诊断基于临床特征的组合。高达60%的SRS患者有7号或11号染色体异常，和<1%显示IGF2信号通路基因(IGF2、HMGA2、PLAG1和CDKN1C)异常。在约40％的病例（特发性SRS）中，潜在的遗传原因仍然未知。我们报告了一个新的IGF2变体c。[-6-2A>G]（NM_000612）在患有严重IUGR和SRS临床特征的儿童中，并确认了靶向外显子组测序在普通遗传分析结果阴性的患者中的实用性。此外,我们报道长期生长激素治疗可改善该患者身高SDS.
