CLN8 disease caused by large genomic deletions

被引：7

作者：

Beesley, Clare ^{[1
]}

Guerreiro, Rita J. ^{[2
,3
,4
]}

Bras, Jose T. ^{[2
,3
,4
]}

Williams, Ruth E. ^{[5
]}

Taratuto, Ana Lia ^{[6
]}

Eltze, Christin ^{[7
]}

Mole, Sara E. ^{[8
]}

机构：

[1] Great Ormond St Hosp Sick Children, Reg Genet Lab, London WC1N 3BH, England

[2] UCL, Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England

[3] Univ Aveiro, Dept Med Sci, P-3810193 Aveiro, Portugal

[4] Univ Aveiro, Inst Biomed, iBiMED, P-3810193 Aveiro, Portugal

[5] Evelina London Childrens Hosp, Childrens Neurosci, Westminster Bridge Rd, London SE1 7EH, England

[6] Neurol Res Inst, RA-2325 Buenos Aires, DF, Argentina

[7] Great Ormond St Hosp Sick Children, Dept Neurol, Great Ormond St, London WC1N 3JH, England

[8] UCL, Inst Child Hlth, Dept Genet Evolut & Environm, MRC,Lab Mol Cell Biol,Genet & Genom Med Unit, Gower St, London WC1E 6BT, England

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2017年 / 5卷 / 01期

基金：

英国惠康基金;

关键词：

Batten; CLN8; NCL; neuronal ceroid lipofuscinosis; NEURONAL CEROID-LIPOFUSCINOSES; MUTATIONS;

D O I：

10.1002/mgg3.263

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BackgroundThe presence of deletions can complicate genetic diagnosis of autosomal recessive disease. MethodThe DNA of patients was analyzed in a diagnostic setting. ResultsWe present three unrelated patients each carrying deletions that encompass the 37kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in CLN8 on the other chromosome. ConclusionMicroarray analysis is recommended in any patient suspected of NCL who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity.

引用

页码：85 / 91

页数：7

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