FOXP1-related intellectual disability syndrome: a recognisable entity
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373765" target="_blank" >RIV/00216208:11130/17:10373765 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/17:10373765
Result on the web
<a href="https://doi.org/10.1136/jmedgenet-2017-104579" target="_blank" >https://doi.org/10.1136/jmedgenet-2017-104579</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1136/jmedgenet-2017-104579" target="_blank" >10.1136/jmedgenet-2017-104579</a>
Alternative languages
Result language
angličtina
Original language name
FOXP1-related intellectual disability syndrome: a recognisable entity
Original language description
Background Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. Methods We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. Results Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. Conclusions FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Medical Genetics
ISSN
0022-2593
e-ISSN
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Volume of the periodical
54
Issue of the periodical within the volume
9
Country of publishing house
GB - UNITED KINGDOM
Number of pages
11
Pages from-to
613-623
UT code for WoS article
000408150900005
EID of the result in the Scopus database
2-s2.0-85029542030