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Background: Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A-E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic characteristics of a subtype of BD, brachydactyly-anonychia.

Methods: In this study, a large Chinese family with three members affected by brachydactyly-anonychia was investigated. Both whole-exome sequencing and microarray-based comparative genomic hybridization (CGH) were performed on this family and the results of copy number variation (CNV) were verified by quantitative real-time PCR (qPCR).

Results: All the affected individuals showed short fingers and toes as well as missing nails; and the absence of middle phalanges in figure II-V of the upper and lower extremities was observed by X-ray examination. A duplication involving in the region of 17q24.3 was detected by CGH. The results of qPCR also represented this duplication in 17q24.3 in all the patients.

Conclusion: In summary, our findings suggest that 17q24.3 duplication is the genetic cause of brachydactyly-anonychia in this family, which support the prior report that brachydactyly-anonychia is associated with 17q24.3 duplication, and further indicates the pathogenic correlation between BD and CNVs.

Titel:	A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.
Autor/in / Beteiligte Person:	Liu, M ; Zhang, X ; Liu, H ; Shen, Y
Link:	Full Text Finder (Volltext)
Zeitschrift:	Molecular genetics & genomic medicine, Jg. 8 (2020-09-01), Heft 9, S. e1392
Veröffentlichung:	[Hoboken, NJ] : John Wiley & Sons, [2013]-, 2020
Medientyp:	academicJournal
ISSN:	2324-9269 (electronic)
DOI:	10.1002/mgg3.1392
Schlagwort:	Adult Brachydactyly pathology Female Humans Male Nails, Malformed genetics Nails, Malformed pathology Pedigree Potassium Channels, Inwardly Rectifying genetics SOX9 Transcription Factor genetics Brachydactyly genetics Chromosome Duplication Chromosomes, Human, Pair 17 genetics Nails, Malformed congenital
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Language: English [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1392. <i>Date of Electronic Publication: </i>2020 Jun 25. MeSH Terms: Chromosome Duplication* ; Brachydactyly / genetics ; Chromosomes, Human, Pair 17 / genetics ; Nails, Malformed / *congenital ; Adult ; Brachydactyly / pathology ; Female ; Humans ; Male ; Nails, Malformed / genetics ; Nails, Malformed / pathology ; Pedigree ; Potassium Channels, Inwardly Rectifying / genetics ; SOX9 Transcription Factor / genetics References: Clin Genet. 2009 Aug;76(2):123-36. (PMID: 19790289) ; Genes Dev. 2008 Jan 15;22(2):141-51. (PMID: 18198333) ; Nature. 2016 Oct 13;538(7624):265-269. (PMID: 27706140) ; Genes Dev. 2002 Nov 1;16(21):2813-28. (PMID: 12414734) ; Mol Genet Genomic Med. 2020 Sep;8(9):e1392. (PMID: 32583964) ; Am J Hum Genet. 2003 Apr;72(4):984-97. (PMID: 12649808) ; Am J Hum Genet. 2000 Oct;67(4):822-31. (PMID: 10986040) ; Am J Hum Genet. 1999 Feb;64(2):578-85. (PMID: 9973296) ; Nat Genet. 2009 Aug;41(8):862-3. (PMID: 19639023) ; Nat Genet. 2000 Mar;24(3):275-8. (PMID: 10700182) ; J Hand Surg Am. 2001 Jan;26(1):31-9. (PMID: 11172365) ; J Med Genet. 1979 Feb;16(1):36-44. (PMID: 469884) ; Am J Hum Genet. 1999 Feb;64(2):570-7. (PMID: 9973295) Contributed Indexing: Keywords: KCNJ2; SOX9; 17q24.3 duplication; brachydactyly; brachydactyly-anonychia Substance Nomenclature: 0 (KCNJ2 protein, human) ; 0 (Potassium Channels, Inwardly Rectifying) ; 0 (SOX9 Transcription Factor) ; 0 (SOX9 protein, human) SCR Disease Name: Anonychia congenita Entry Date(s): Date Created: 20200626 Date Completed: 20210527 Latest Revision: 20210527 Update Code: 20231215 PubMed Central ID: PMC7507485

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A 17q24.3 duplication identified in a large Chinese family with brachydactyly-anonychia.