Matches in SemOpenAlex for { <https://semopenalex.org/work/W2189425765> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2189425765 abstract "Background: Metacarpal 4–5 fusion (MF4; MIM#309630) is a rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a genetic syndrome. Recently, we have identified FGF16 nonsense mutations as the underlying cause of isolated X-linked recessive MF4. Methods: In this report, we provide a detailed clinical description of a sporadic male patient showing MF4 in whom we performed Sanger sequencing of the entire coding sequence of FGF16. Results: In addition to MF4 symptoms, the patient presented with generalized joint laxity and hypermobility. FGF16 sequencing detected a novel truncating mutation (c.474_477del; p.E158DfsX25) in exon 3 of the gene. A heterozygous mutation was found in a clinically and radiologically unaffected mother of the proband. Conclusion: Our finding confirms that truncating mutations of FGF16 are causative for X-linked recessive metacarpal 4–5 fusion. Importantly, the mutation detected in this study was located in last exon of the gene (exon 3), like the only two FGF16 disease-causing variants identified to date. Thus, all FGF16 mutations known to give rise to this rare skeletal hand malformation are C-terminal and most probably do not result in a nonsense mediated decay. Additionally, our proband showed mild symptoms of a connective tissue disorder, as some other patients previously reported to have X-linked MF4. Therefore, we suggest that impaired FGF16 function may also be responsible for connective tissue symptoms in MF4 patients." @default.
- W2189425765 created "2016-06-24" @default.
- W2189425765 creator A5012988621 @default.
- W2189425765 creator A5023743496 @default.
- W2189425765 creator A5028811429 @default.
- W2189425765 creator A5051777669 @default.
- W2189425765 creator A5057681171 @default.
- W2189425765 creator A5079008015 @default.
- W2189425765 date "2014-01-01" @default.
- W2189425765 modified "2023-09-27" @default.
- W2189425765 title "Brief Report Further Evidence for FGF16 Truncating Mutations as the Cause of X-Linked Recessive Fusion of Metacarpals 4 / 5" @default.
- W2189425765 cites W120638710 @default.
- W2189425765 cites W1973842848 @default.
- W2189425765 cites W1974873948 @default.
- W2189425765 cites W1988378146 @default.
- W2189425765 cites W2006641366 @default.
- W2189425765 cites W2023324616 @default.
- W2189425765 cites W2030789263 @default.
- W2189425765 cites W2054151200 @default.
- W2189425765 cites W2060163348 @default.
- W2189425765 cites W2066479550 @default.
- W2189425765 cites W2088320964 @default.
- W2189425765 cites W2120727512 @default.
- W2189425765 cites W2142614266 @default.
- W2189425765 cites W2149594557 @default.
- W2189425765 cites W2170948935 @default.
- W2189425765 cites W2416648662 @default.
- W2189425765 cites W1565614114 @default.
- W2189425765 hasPublicationYear "2014" @default.
- W2189425765 type Work @default.
- W2189425765 sameAs 2189425765 @default.
- W2189425765 citedByCount "0" @default.
- W2189425765 crossrefType "journal-article" @default.
- W2189425765 hasAuthorship W2189425765A5012988621 @default.
- W2189425765 hasAuthorship W2189425765A5023743496 @default.
- W2189425765 hasAuthorship W2189425765A5028811429 @default.
- W2189425765 hasAuthorship W2189425765A5051777669 @default.
- W2189425765 hasAuthorship W2189425765A5057681171 @default.
- W2189425765 hasAuthorship W2189425765A5079008015 @default.
- W2189425765 hasConcept C104317684 @default.
- W2189425765 hasConcept C12125453 @default.
- W2189425765 hasConcept C142724271 @default.
- W2189425765 hasConcept C188997412 @default.
- W2189425765 hasConcept C2910325231 @default.
- W2189425765 hasConcept C36823959 @default.
- W2189425765 hasConcept C501734568 @default.
- W2189425765 hasConcept C54355233 @default.
- W2189425765 hasConcept C62923972 @default.
- W2189425765 hasConcept C71924100 @default.
- W2189425765 hasConcept C75563809 @default.
- W2189425765 hasConcept C76818968 @default.
- W2189425765 hasConcept C86803240 @default.
- W2189425765 hasConcept C96777560 @default.
- W2189425765 hasConceptScore W2189425765C104317684 @default.
- W2189425765 hasConceptScore W2189425765C12125453 @default.
- W2189425765 hasConceptScore W2189425765C142724271 @default.
- W2189425765 hasConceptScore W2189425765C188997412 @default.
- W2189425765 hasConceptScore W2189425765C2910325231 @default.
- W2189425765 hasConceptScore W2189425765C36823959 @default.
- W2189425765 hasConceptScore W2189425765C501734568 @default.
- W2189425765 hasConceptScore W2189425765C54355233 @default.
- W2189425765 hasConceptScore W2189425765C62923972 @default.
- W2189425765 hasConceptScore W2189425765C71924100 @default.
- W2189425765 hasConceptScore W2189425765C75563809 @default.
- W2189425765 hasConceptScore W2189425765C76818968 @default.
- W2189425765 hasConceptScore W2189425765C86803240 @default.
- W2189425765 hasConceptScore W2189425765C96777560 @default.
- W2189425765 hasLocation W21894257651 @default.
- W2189425765 hasOpenAccess W2189425765 @default.
- W2189425765 hasPrimaryLocation W21894257651 @default.
- W2189425765 hasRelatedWork W1999083905 @default.
- W2189425765 hasRelatedWork W2015765825 @default.
- W2189425765 hasRelatedWork W2412790128 @default.
- W2189425765 hasRelatedWork W2415943575 @default.
- W2189425765 hasRelatedWork W2531061569 @default.
- W2189425765 hasRelatedWork W2570987256 @default.
- W2189425765 hasRelatedWork W2604249010 @default.
- W2189425765 hasRelatedWork W2728709569 @default.
- W2189425765 hasRelatedWork W2728901203 @default.
- W2189425765 hasRelatedWork W2763087412 @default.
- W2189425765 hasRelatedWork W2792941413 @default.
- W2189425765 hasRelatedWork W2809371957 @default.
- W2189425765 hasRelatedWork W2845187819 @default.
- W2189425765 hasRelatedWork W2904017571 @default.
- W2189425765 hasRelatedWork W2913060897 @default.
- W2189425765 hasRelatedWork W2970107915 @default.
- W2189425765 hasRelatedWork W2979422758 @default.
- W2189425765 hasRelatedWork W2998753244 @default.
- W2189425765 hasRelatedWork W3099243686 @default.
- W2189425765 hasRelatedWork W2604267196 @default.
- W2189425765 isParatext "false" @default.
- W2189425765 isRetracted "false" @default.
- W2189425765 magId "2189425765" @default.
- W2189425765 workType "article" @default.