Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
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DOI：
10.1016/j.ejmg.2015.07.004
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发表时间：
2015-09-01
影响因子：
1.9
通讯作者：
Dollfus, Helene
中科院分区：
文献类型：
--
作者：
Herenger, Yvan;Stoetzel, Corinne;Dollfus, Helene
Schinzel-Giedion综合征(SGS，MiM#269150)是一种罕见的综合征，其特征是严重的智能障碍，典型的面部格式塔，多毛症和多种先天性畸形，包括骨骼、泌尿生殖、肾脏和心脏畸形。SGS的预后非常严重，死亡一般发生在出生后几年内。2002年，我们报告了2例儿童SGS，并进行了3年的随访。他们表现出非常相似和特殊的表型，伴随着独特的面部格式塔，严重的发育迟缓，巨大的细胞减退，进行性神经变性，软化，角膜感觉减退和耳聋。此外，颞骨成像显示了一种音叉畸形的距骨。2010年，Hoischen et al.在SGS患者中发现SETBP1致病杂合性从头突变。我们对患者的SETBP1进行了测序，在两个孩子中都发现了先前报道的c.2608G>；A(p.Gly870Ser)突变。自2002年以来，我们的一名患者在6岁时死亡，另一名患者在15岁时仍然活着。到目前为止，这样的预期寿命从未被报道过。我们在这里描述了两个孩子分别在6年和15年的随访情况。这篇文章进一步证明了SETBP1是SGS的主要基因，并报道了一例15岁患者以前未见过的疾病的自然演变。(C)2015年，爱思唯尔·马森公司出版。
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. The prognosis of SGS is very severe and death occurs generally within a few years after birth. In 2002, we reported 2 children with SGS with a follow-up of 3 years. They presented a very similar and particular phenotype associating distinctive facial gestalt, severe developmental delay, megacalycosis, progressive neurodegeneration, alacrimi, corneal hypoesthesia and deafness. Furthermore, temporal bone imaging revealed a tuning-fork malformation of the stapes. In 2010, Hoischen et al. identified in SGS patients pathogenic heterozygous de novo mutations in SETBP1. We sequenced SETBP1 in our patients and found the previously reported c.2608G>A (p.Gly870Ser) mutation in both children. Since 2002, one of our patients died at 6 years old and the other patient is still alive at 15 years old. Such a life expectancy has never been reported so far. We describe herein the follow up of the 2 children during 6 and 15 years respectively. This article gives further evidence of the implication of SETBP1 as the major gene of SGS, and reports the previously unseen natural evolution of the disease in a 15 years old patient. (C) 2015 Published by Elsevier Masson SAS.