Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE
Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE
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综合征性先天性腹泻：阿联酋发现新的 SPINT2 突变
DOI：
10.1136/bcr-2016-217464
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发表时间：
2017
期刊：
影响因子：
0.9
通讯作者：
B. Ofoegbu
中科院分区：
文献类型：
--
作者：
Solange Bou Chaaya;J. D. Eason;B. Ofoegbu
我们报道了一个新的SPINT2基因突变（c.443G> a (p. Arg148His)），该突变解释了中东一个阿联酋家庭中先天性钠性腹泻（CSD）与后肛门闭锁的关联。据我们所知，这种突变既没有在突变数据库中列出，也没有在文献中描述。与其他与SPINT2相关的CSD患者类似，该儿童仍然依赖肠外营养补充液体和营养支持，导致无法茁壮成长。确定综合征性CSD的分子基础将有助于对患者进行产前和产后诊断，并有助于为受影响的家庭提供咨询，特别是在像阿联酋这样近亲结婚并不罕见的地区。
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon.