Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency

被引:13
|
作者
Wallis, Mathew [1 ,2 ]
Baumer, Alessandra [7 ]
Smaili, Wiam [8 ,9 ]
Jaouad, Imane Cherkaoui [8 ,9 ]
Sefiani, Abdelaziz [8 ,9 ]
Jacobson, Erica [5 ]
Bowyer, Lucy [6 ]
Mowat, David [3 ,4 ]
Rauch, Anita [7 ]
机构
[1] Austin Hlth, Clin Genet Serv, Studley Rd,POB 5555, Heidelberg, Vic 3084, Australia
[2] Univ Melbourne, Austin Hlth, Dept Med, Melbourne, Vic, Australia
[3] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia
[4] Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW, Australia
[5] Sydney Childrens Hosp, Dept Paediat Neurosurg, Randwick, NSW, Australia
[6] Royal Womens Hosp, Dept Maternal Fetal Med, Randwick, NSW, Australia
[7] Univ Zurich, Inst Med Genet, Zurich, Switzerland
[8] Univ Mohammed 5, Fac Med & Pharm, Ctr Genom Humaine, Rabat, Morocco
[9] Inst Natl Hyg, Dept Genet Med, Rabat, Morocco
关键词
Congenital hydrocephalus; CCDC88C; Brain malformation; Autosomal recessiveTopics; Reproductive medicine; Genetic counselling; Molecular genetics; TERM-FOLLOW-UP; CONGENITAL HYDROCEPHALUS; INFANTILE HYDROCEPHALUS; AQUEDUCTAL STENOSIS; CHILDREN; COHORT; CLASSIFICATION; MUTATIONS; CILIA;
D O I
10.1016/j.ejmg.2017.12.002
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention. It is for this reason that couples with an antenatal diagnosis of severe hydrocephalus are given the option, and may opt, for termination of the pregnancy. We present two families with CCDC88C-related recessive congenital hydrocephalus with children who had severe hydrocephalus. Those individuals who were shunted within the first few weeks of life, who did not require multiple surgical revisions, and who had a more distal truncating variant of the CCDC88C gene met their early childhood developmental milestones in some cases. This suggests that children with CCDC88C-related autosomal recessive hydrocephalus can have normal developmental outcomes under certain circumstances. We recommend CCDC88C analysis in cases of severe non-syndromic congenital hydrocephalus, especially when aqueduct stenosis with or without a medial diverticulum is seen, in order to aid prognosis discussion.
引用
收藏
页码:189 / 196
页数:8
相关论文
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