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A boy with Silver–Russell syndrome and Sotos syndrome
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-11-15 , DOI: 10.1002/ajmg.a.61967
Eva M C Schwaibold 1 , Jasmin Beygo 2 , Katharina Obeid 1 , Anna Jauch 1 , Katrin Hinderhofer 1 , Ute Moog 1
Affiliation  

Silver–Russell syndrome (SRS) is characterized by pre‐ and postnatal growth deficiency. It is most often caused by hypomethylation of the paternal imprinting center 1 of chromosome 11p15.5. In contrast, Sotos syndrome is an overgrowth syndrome that results either from pathogenic NSD1 gene variants or copy number variations affecting the NSD1 gene. Here, we report on a 6 month‐old boy with severe short stature, relative macrocephaly, severe feeding difficulties with underweight, muscular hypotonia, motor delay, medullary nephrocalcinosis, bilateral sensorineural hearing impairment and facial dysmorphisms. SNP array revealed a 2.1 Mb de novo interstitial deletion of 5q35.2q35.3 encompassing the NSD1 gene. As Sotos syndrome could not satisfactorily explain his symptoms, diagnostic testing for SRS was initiated. It demonstrated hypomethylation of the imprinting center 1 of chromosome 11p15.5 confirming the clinically suspected SRS. We compared the symptoms of our patient with the typical clinical features of individuals with SRS and Sotos syndrome, respectively. To our knowledge, this is the first study reporting the very unusual coincidence of both Sotos syndrome and SRS in the same patient.

中文翻译:

银-罗素综合征和索托斯综合征的男孩

Silver-Russell综合征(SRS)的特征是出生前和出生后生长不足。最常见的原因是11p15.5号染色体的父亲印记中心1的甲基化不足。相反,Sotos综合征是一种过度生长综合征,它是由致病性NSD1基因变异或影响NSD1基因的拷贝数变异引起的。在这里,我们报道了一个6个月大的男孩,该男孩身材矮小,相对大头畸形,严重的进食困难,体重不足,肌肉张力低下,运动延迟,髓质肾钙化病,双侧感觉神经性听力障碍和面部畸形。SNP阵列显示5q35.2q35.3的2.1 Mb从头间隙缺失,包括NSD1基因。由于Sotos综合征无法令人满意地解释其症状,因此开始了SRS的诊断测试。它表明染色体11p15.5的印迹中心1的甲基化不足,证实了临床上可疑的SRS。我们将患者的症状分别与SRS和Sotos综合征患者的典型临床特征进行了比较。据我们所知,这是第一项报道在同一患者中Sotos综合征和SRS极为罕见的重合的研究。
更新日期:2021-01-12
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