Galehdari Hamid, Monajemzadeh Roya, Nazem Habibolah, Mohamadian Gholamreza, Pedram Mohammad
Genetics Department, Shahid Chamran University, Ahwaz, Iran.
J Med Case Rep. 2011 Jun 27;5:242. doi: 10.1186/1752-1947-5-242.
Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange syndrome.
A two-month-old Iranian boy who showed multiple congenital anomalies was referred to the genetic center of a welfare organization in southwest Iran. He was the second child of a non-consanguineous marriage, born after full term with normal delivery. His birth weight was 3110 g, his length was 46 cm and his head circumference was 30 cm. Both parents were clinically asymptomatic, with no positive history of any deformity in their respective families.
Sequencing of the NIPBL gene from our patient revealed a single-base deletion of thymidine in exon 10 (c.516delT). This mutation presumably results in premature termination at codon 526. We did not observe this mutation in the parents of our patient with Cornelia de Lange syndrome. The results presented here enlarge the spectrum of NIPBL gene mutations associated with Cornelia de Lange syndrome by identifying a novel de novo mutation in an Iranian patient with Cornelia de Lange syndrome and further support the hypothesis that NIPBL mutations are disease-causing mutations leading to Cornelia de Lange syndrome.
科妮莉亚·德·朗格综合征的特征为面部畸形、多毛症、严重生长发育迟缓。已在科妮莉亚·德·朗格综合征中鉴定出具有常染色体显性模式的NIPBL基因和具有X连锁模式的SMC1A基因的种系突变。
一名两个月大的伊朗男孩，表现出多种先天性异常，被转诊至伊朗西南部一家福利机构的遗传中心。他是非近亲结婚的第二个孩子，足月正常分娩出生。他出生体重3110克，身长46厘米，头围30厘米。父母双方临床均无症状，各自家族中无任何畸形的阳性病史。
对我们患者的NIPBL基因进行测序发现外显子10中有一个胸腺嘧啶单碱基缺失（c.516delT）。该突变可能导致密码子526处过早终止。在我们患有科妮莉亚·德·朗格综合征的患者的父母中未观察到这种突变。通过在一名患有科妮莉亚·德·朗格综合征的伊朗患者中鉴定出一种新的新生突变，此处呈现的结果扩大了与科妮莉亚·德·朗格综合征相关联的NIPBL基因突变谱，并进一步支持了NIPBL突变是导致科妮莉亚·德·朗格综合征的致病突变这一假说。
