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231226s2022 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2022.109104
|2 doi
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|a pubmed24n1151.xml
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|a (DE-627)NLM345590635
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|a (NLM)36041693
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|a (PII)S1521-6616(22)00185-1
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Tomomasa, Dan
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3
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|c 2022
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 13.09.2022
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|a Date Revised 11.11.2022
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2022 Elsevier Inc. All rights reserved.
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|a Familial hemophagocytic lymphohistiocytosis type 3 is a fatal inborn error of immunity due to abnormal cytotoxic activity of T and NK cells and is caused by variants in UNC13D, which encodes Munc13-4. One published case was reported to carry a tandem duplication of UNC13D exons 7-12, and we here present another case with the exact same duplication breakpoints. The patient carried the tandem duplication from maternal origin, and a c.2346_2349 variant on the paternal allele. Single nucleotide polymorphism analysis around UNC13D revealed that the allele with tandem duplication was most likely a founder allele. Transposable element analysis showed that the breakpoints occurred within Alu elements in introns 12 and 6. Multiple sequence alignment revealed that Alu elements containing the truncated points are highly homologous. Sequence homology was thought to be a factor predisposing to the tandem duplication variant
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a Familial hemophagocytic lymphohistiocytosis type 3
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| 650 |
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|a Tandem duplication
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4 |
|a UNC13D
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| 650 |
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|a Membrane Proteins
|2 NLM
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| 650 |
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|a UNC13D protein, human
|2 NLM
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| 700 |
1 |
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|a Hiejima, Eitaro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Miyamoto, Takayuki
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Tanita, Kay
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Matsuoka, Masaki
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Niizato, Daiki
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Mitsuiki, Noriko
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Isoda, Takeshi
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Yasumi, Takahiro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a van Zelm, Menno C
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Morio, Tomohiro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kanegane, Hirokazu
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 242(2022) vom: 15. Sept., Seite 109104
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
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|g volume:242
|g year:2022
|g day:15
|g month:09
|g pages:109104
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|u http://dx.doi.org/10.1016/j.clim.2022.109104
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