Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
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DOI：
10.1093/ckj/sfw057
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发表时间：
2016-12
影响因子：
4.6
通讯作者：
Sayer JA
中科院分区：
文献类型：
--
作者：
Al-Hamed MH;Kurdi W;Alsahan N;Ambosaidi Q;Tulbah M;Sayer JA
常染色体隐性遗传性肾小管发育不全是一种罕见的致死性疾病，影响出生前的肾脏发育。RTD表现为无尿和严重低血压，导致羊水过少和出生缺陷，称为波特综合征。据报道，编码肾素-血管紧张素系统组分（ACE、AGT、AGTR 1和REN）的基因中的纯合或复合杂合突变可导致RTD。采用产前超声和受影响胎儿的分子遗传学分析，对一个有多胎死产史的近亲家庭进行了调查。产前超声检查提示RTD，全外显子组测序证实REN基因中存在一个新的纯合移码突变c.299_300delAA（p.Lys100Serfs*4），与亲本DNA样品分离。RTD仍然是产前和围产期死亡的一个罕见但重要的原因，并可能出现产前高回声肾。
Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozygous or compound heterozygous mutations in genes encoding components of the renin–angiotensin system (ACE, AGT, AGTR1 and REN) have been reported to cause RTD. A consanguineous family with a history of multiple stillbirths was investigated using prenatal ultrasound and molecular genetic analysis of an affected foetus. Prenatal ultrasound scan suggested RTD, and a novel homozygous frameshift mutation c.299_300delAA (p.Lys100Serfs*4) in the REN gene was identified by whole-exome sequencing, which segregated with parental DNA samples. RTD remains a rare but important cause of prenatal and perinatal death and may present with antenatally hyperechogenic kidneys.
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影响因子：
2
作者：
Uematsu, Mitsugu;Sakamoto, Osamu;Tsuchiya, Shigeru
通讯作者：
Tsuchiya, Shigeru
影响因子：
13.2
作者：
Beck, Bodo B.;Trachtman, Howard;Wolf, Matthias T. F.
通讯作者：
Wolf, Matthias T. F.
影响因子：
3.9
作者：
Gribouval, Olivier;Moriniere, Vincent;Gubler, Marie Claire
通讯作者：
Gubler, Marie Claire
DOI：
10.1002/ajmg.1320430512
发表时间：
1992-07-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ALLANSON, JE;HUNTER, AGW;JIMENEZ, C
通讯作者：
JIMENEZ, C
影响因子：
13.6
作者：
Decramer, Stephane;Parant, Olivier;Bellanne-Chantelot, Christine
通讯作者：
Bellanne-Chantelot, Christine