Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS. Fourteen affected fetuses from a Dutch genetic isolate were traced back to common ancestors 11 generations ago. Homozygosity mapping in two fetuses revealed MUSK as a candidate gene. All tested cases carried an identical homozygous v... Mehr ...
| Verfasser: |
Tan-Sindhunata, M.B.
Matthijssen, I.B.
Smit, M.
Baas, F.
de Vries, J.I.P.
van der Voorn, J.P.
Kluijt, I.
Hagen, M.A.
Blom, E.W.
Sistermans, E.A.
Heijboer-Meijers, J.E.
Waisfisz, Q.
Weiss, M.M.
Groffen, A.J.A. |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2015 |
| Reihe/Periodikum: |
Tan-Sindhunata , M B , Matthijssen , I B , Smit , M , Baas , F , de Vries , J I P , van der Voorn , J P , Kluijt , I , Hagen , M A , Blom , E W , Sistermans , E A , Heijboer-Meijers , J E , Waisfisz , Q , Weiss , M M & Groffen , A J A 2015 , ' Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ' , European Journal of Human Genetics , vol. 23 , no. 9 , pp. 1151-1157 . https://doi.org/10.1038/ejhg.2014.273 |
| Schlagwörter: |
/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
/ name=SDG 3 - Good Health and Well-being |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-26687219 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://research.vu.nl/en/publications/ca689f9a-a91b-41a7-88c9-760065ec430e |
