Interstitial 1q23.3q24.1 Deletion in a Patient with Renal Malformation, Congenital Heart Disease, and Mild Intellectual Disability

被引:7
|
作者
Mackenroth, Luisa [1 ]
Hackmann, Karl [1 ]
Klink, Barbara [1 ]
Weber, Julia Sara [2 ]
Mayer, Brigitte [2 ]
Schrock, Evelin [1 ]
Tzschach, Andreas [1 ]
机构
[1] Tech Univ Dresden, Inst Klin Genet, Med Fak Carl Gustav Carus, Fetscherstr 74, D-01307 Dresden, Germany
[2] Univ Klinikum Carl Gustav Carus, Klin & Poliklin Kinder & Jugendmed, Dresden, Germany
关键词
1q23.3q24.1; deletion; intellectual disability; renal malformation; PBX1; LMX1A; RXRG; microcephaly; congenital heart disease; LMX1A; GENES; EXPRESSION; PHENOTYPE; NEURONS; MOUSE;
D O I
10.1002/ajmg.a.37785
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Interstitial deletions including chromosome region 1q23.3q24.1 are rare. Only eight patients with molecularly characterized deletions have been reported to date. Their phenotype included intellectual disability/developmental delay, growth retardation, microcephaly, congenital heart disease, and renal malformations. We report on a female patient with mild developmental delay, congenital heart disease, and bilateral renal hypoplasia in whom an interstitial de novo deletion of approximately 2.7Mb in 1q23.3q24.1 was detected by array CGH. This is the smallest deletion described in this region so far. Genotype-phenotype comparison with previously published patients allowed us to propose LMX1A and RXRG as potential candidate genes for intellectual disability, PBX1 as a probable candidate gene for renal malformation, and enabled us to narrow down a chromosome region associated with microcephaly. (C) 2016 Wiley Periodicals, Inc.
引用
收藏
页码:2394 / 2399
页数:6
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