Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

被引：43

作者：

Spielmann, Malte ^{[1
,2
]}

Reichelt, Gabriele ^{[3
]}

Hertzberg, Christoph ^{[3
]}

Trimborn, Marc ^{[1
]}

Mundlos, Stefan ^{[1
,2
]}

Horn, Denise ^{[1
]}

Klopocki, Eva ^{[1
,2
]}

机构：

[1] Charite Univ Med Berlin, Inst Med & Human Genet, Berlin, Germany

[2] Max Planck Inst Mol Genet, Berlin, Germany

[3] Vivantes Klinikum Neukolln, Berlin, Germany

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2011年 / 54卷 / 04期

关键词：

Homozygous deletion 15q13.3; Mental retardation; Array CGH; Macrocytosis; Retinal dysfunction; KLF13; TRPM1; MICRODELETIONS;

D O I：

10.1016/j.ejmg.2011.04.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The heterozygous 15q13.3 microdeletion syndrome (MIM #612001) was first described by Sharp et al. in 2008. So far four patients with 15q13.3 homozygous or compound heterozygous microdeletions have been identified. Here we report a non-consanguineous family with two affected siblings carrying a homozygous microdeletion of similar to 1.5 Mb at the 15q13.3 locus. They presented with congenital retinal dysfunction, refractory epilepsy, encephalopathy, mental retardation, repetitive hand movements, severe muscular hypotonia and macrocytosis. Dysmorphic facial features are synophrys and bilateral proptosis. The siblings carry a homozygous microdeletion at 15q13.3 of similar to 1.5 Mb including the genes ARHGAP11B, MTMR15, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7. The absence of CHRNA7 has been suggested as a cause of refractory seizures. According to knock-out experiments the deletion of KLF13 could be an explanation for macrocytosis. The homozygous loss of TRPM1 could be a possible explanation for congenital retinal dysfunction. (C) 2011 Elsevier Masson SAS. All rights reserved.

引用

页码：E441 / E445

页数：5

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