Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-upReportar como inadecuado




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Molecular Cytogenetics

, 7:52

First Online: 19 August 2014Received: 08 May 2014Accepted: 20 June 2014

Abstract

BackgroundCopy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2.

ResultsWe revisited a white female subject with a chromosome translocation, t8;10p23;q23mat and a 10q telomeric deletion suspected by G-banding 30 years ago. This female with severe intellectual disability, no speech, facial dysmorphism, intractable epilepsy, recurrent infection, and skeletal abnormalities has been observed from the birth until her death. The karyotype analysis reconfirmed the previously reported chromosome translocation with a revision as 46,XX,t8;10p23.3;q23.2mat by adding more detail in chromosomal sub-bands. The array comparative genomic hybridization, however, did not detect the 10q terminal deletion originally reported, but instead, revealed a 390 kb duplication at 2p11.2; 46,XX,t8;10p23.3;q23.2mat.arrhg 19 2p11.285469151x2,85474356-85864257x3,85868355x2. This duplication region was confirmed by real-time quantitative PCR and real-time reverse transcriptase quantitative PCR.

ConclusionsWe suggest three positional candidate genes for intellectual disability and recurrent infection based upon gene function and data from real-time reverse transcriptase quantitative PCR—VAMP8 and RNF181 for intellectual disability and CAPG for recurrent infection.

KeywordsArray CGH CAPG Copy number variation Duplication Intellectual disability Recurrent infection RNF181 2p11.2 VAMP8 AbbreviationsaCGHArray comparative genomic hybridization

EEGElectroencephalography

FISHFluorescent in situ hybridization

qPCRReal-time quantitative PCR

qRT-PCRReal-time reverse transcriptase quantitative PCR.

Electronic supplementary materialThe online version of this article doi:10.1186-1755-8166-7-52 contains supplementary material, which is available to authorized users.

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Autor: Kyung Ran Jun - Reinhard Ullmann - Saadullah Khan - Lawrence C Layman - Hyung-Goo Kim

Fuente: https://link.springer.com/



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