Abstract：
BACKGROUND:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the COL7A1 gene. Incongruent gene transmission is occasionally reported in recessive diseases, and its underlying mechanism is often uniparental disomy (UPD). AIM:To understand the genetic basis of incongruent gene transmission in a Chinese family with RDEB, in which a discrepancy of COL7A1 genotyping was encountered during our mutation analysis. METHODS:We used a pCAS2 minigene-based in vitro splicing assay to confirm the pathogenicity of the splicing variant we identified in the proband. Next, a combination of genetic tools, including whole-genome SNP array analysis and multiplex ligation-dependent probe amplification copy number analysis, was used to unravel the cause of the discrepancy in the COL7A1 genotyping. RESULTS:Sanger sequencing identified a novel, single-peak mutation, c.4980+5G>C, in COL7A1 in the proband, which was heterozygous in his father and wild type in his mother. In vitro splicing assay showed that c.4980+5G>C was pathogenic and led to skipping of COL7A1 exon 53. SNP array analysis and multiplex ligation-dependent probe amplification of the proband's DNA revealed a maternally derived, de novo, interstitial deletion on chromosome 3p21.31, which removed COL7A1 and 15 flanking genes, excluding the possibility of UPD. CONCLUSION:Our findings favour an exceptionally rare event, namely a de novo COL7A1 microdeletion in concurrence with an inherited mutation in trans. This study should aid molecular diagnosis and genetic counselling of RDEB and possibly other recessive diseases in which genotyping discrepancy is encountered.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Lee M,Xu G,Wang K,Wang H,Zhang J,Tang Z,Lin Z,Yang Ydoi
10.1111/ced.12809subject
Has Abstractpub_date
2016-06-01 00:00:00pages
372-8issue
4eissn
0307-6938issn
1365-2230journal_volume
41pub_type
杂志文章abstract：:We describe an 18-year-old girl with systemic lupus erythematosus (SLE) who had cutaneous papulonodular mucinosis (PNM) as the first sign of SLE. She presented with multiple flesh-coloured papules on the face, abdomen and limbs. Histological examination of a biopsy taken from a papule showed diffuse deposition of muci...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
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journal_title：Clinical and experimental dermatology
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doi：10.1111/j.1365-2230.1992.tb00236.x
更新日期：1992-09-01 00:00:00
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journal_title：Clinical and experimental dermatology
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journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1994.tb01149.x
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doi：
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pub_type： 杂志文章,评审
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pub_type： 杂志文章
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pub_type： 杂志文章
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journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.1998.00322.x
更新日期：1998-03-01 00:00:00
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journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1991.tb00343.x
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:The dorsum of the hand is a common site for squamous cell carcinoma, and excision with appropriate margins often results in surgical defects that cannot be repaired by primary side-to-side closure. AIM:To assess healing time, complications and resulting scars when surgical wounds on the dorsum of the hand w...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12044
更新日期：2013-08-01 00:00:00
