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Identification of n...
Identification of novel genetic causes of Rett syndrome-like phenotypes
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- Lopes, Fatima (författare)
- Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Hlth Sci, P-4710057 Braga, Portugal.;ICVS 3Bs PT Govt Associate Lab, Braga, Portugal.
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- Barbosa, Mafalda (författare)
- Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.;Inst Gulbenkian Ciencias, Oeiras, Portugal.
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- Ameur, Adam (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Soares, Gabriela (författare)
- Ctr Hosp Porto, Ctr Med Genet Dr Jacinto Magalhaes, Oporto, Portugal.
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- de Sa, Joaquim (författare)
- Ctr Hosp & Univ Coimbra, Hosp Pediat, Serv Genet Med, Coimbra, Portugal.
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- Dias, Ana Isabel (författare)
- Ctr Hosp Lisboa Cent, Hosp D Estefania, Serv Neurol Pediat, Lisbon, Portugal.
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- Oliveira, Guiomar (författare)
- Ctr Hosp & Univ Coimbra, Hosp Pediat, Unidade Neurodesenvolvimento & Autismo, Ctr Desenvolvimento Crianca, Coimbra, Portugal.;Ctr Hosp & Univ Coimbra, Hosp Pediat, Ctr Invest & Formacao Clin, Coimbra, Portugal.;Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal.;Univ Coimbra, Inst Biomed Imaging & Life Sci, Coimbra, Portugal.
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- Cabral, Pedro (författare)
- Egas Moniz Hosp, Dept Neurol, Lisbon, Portugal.
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- Temudo, Teresa (författare)
- Ctr Hosp Porto, Dept Neuropediat, Oporto, Portugal.
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- Calado, Eulalia (författare)
- Ctr Hosp Lisboa Cent, Hosp D Estefania, Serv Neurol Pediat, Lisbon, Portugal.
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- Cruz, Isabel Fineza (författare)
- Ctr Hosp Univ Coimbra, Ctr Desenvolvimento Luis Borges, Hosp Pediat, Coimbra, Portugal.
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- Vieira, Jose Pedro (författare)
- Ctr Hosp Lisboa Cent, Hosp D Estefania, Serv Neurol Pediat, Lisbon, Portugal.
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- Oliveira, Renata (författare)
- Ctr Hosp & Univ Coimbra, Hosp Pediat, Serv Genet Med, Coimbra, Portugal.
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- Esteves, Sofia (författare)
- Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Hlth Sci, P-4710057 Braga, Portugal.;ICVS 3Bs PT Govt Associate Lab, Braga, Portugal.
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- Sauer, Sascha (författare)
- Max Planck Inst Mol Genet, Otto Warburg Lab, Ihnestr 73, D-14195 Berlin, Germany.;Univ Wurzburg, CU Syst Med, D-97070 Wurzburg, Germany.
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- Jonasson, Inger (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Syvänen, Ann-Christine (författare)
- Uppsala universitet,Molekylär medicin,Uppsala Univ, Mol Med & Sci Life Lab, Dept Med Sci, Uppsala, Sweden.
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- Gyllensten, Ulf (författare)
- Uppsala universitet,Medicinsk genetik och genomik
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- Pinto, Dalila (författare)
- Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.
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- Maciel, Patricia (författare)
- Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Hlth Sci, P-4710057 Braga, Portugal.;ICVS 3Bs PT Govt Associate Lab, Braga, Portugal.
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Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Hlth Sci, P-4710057 Braga, Portugal;ICVS 3Bs PT Govt Associate Lab, Braga, Portugal. Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, Mindich Child Hlth & Dev Inst, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA.;Inst Gulbenkian Ciencias, Oeiras, Portugal. (creator_code:org_t)
- 2016-01-06
- 2016
- Engelska.
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 53:3, s. 190-199
- Relaterad länk:
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https://jmg.bmj.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. Methods and results We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering of the single nucleotide variants and indels with preference for de novo, homozygous/compound heterozygous, or maternally inherited X linked variants. Examination by MRI and muscle biopsies was also performed. Pathogenic genomic imbalances were found in two patients (10.5%): an 18q21.2 deletion encompassing four exons of the TCF4 gene and a mosaic UPD of chromosome 3. Variants in genes previously implicated in neurodevelopmental disorders (NDD) were identified in six patients (32%): de novo variants in EEF1A2, STXBP1 and ZNF238 were found in three patients, maternally inherited X linked variants in SLC35A2, ZFX and SHROOM4 were detected in two male patients and one homozygous variant in EIF2B2 was detected in one patient. Variants were also detected in five novel NDD candidate genes (26%): we identified de novo variants in the RHOBTB2, SMARCA1 and GABBR2 genes; a homozygous variant in EIF4G1; compound heterozygous variant in HTT. Conclusions Network analysis reveals that these genes interact by means of protein interactions with each other and with the known RTT genes. These findings expand the phenotypical spectrum of previously known NDD genes to encompass RTT-like clinical presentations and identify new candidate genes for RTT-like phenotypes.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Rett syndrome
- Epilepsy
- Whole exome sequencing
- Intellectual disability
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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- Av författaren/redakt...
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Lopes, Fatima
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Barbosa, Mafalda
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Ameur, Adam
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Soares, Gabriela
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de Sa, Joaquim
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Dias, Ana Isabel
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Oliveira, Guioma ...
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Cabral, Pedro
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Temudo, Teresa
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Calado, Eulalia
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Cruz, Isabel Fin ...
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Vieira, Jose Ped ...
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Oliveira, Renata
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Esteves, Sofia
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Sauer, Sascha
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Jonasson, Inger
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Syvänen, Ann-Chr ...
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Gyllensten, Ulf
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Pinto, Dalila
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Maciel, Patricia
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visa färre...
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Uppsala universitet