| 000 | 02749cam a2200337 4500500 | ||
|---|---|---|---|
| 005 | 20250121154744.0 | ||
| 041 | _afre | ||
| 042 | _adc | ||
| 100 | 1 | 0 |
_aPan, Chaolan _eauthor |
| 700 | 1 | 0 |
_a Cheng, Ruhong _eauthor |
| 700 | 1 | 0 |
_a Li, Yue _eauthor |
| 700 | 1 | 0 |
_a Zhao, Mingzhu _eauthor |
| 700 | 1 | 0 |
_a Chen, Fuying _eauthor |
| 700 | 1 | 0 |
_a Liang, Jian-Ying _eauthor |
| 700 | 1 | 0 |
_a Yu, Xia _eauthor |
| 700 | 1 | 0 |
_a Wang, Xiaoxiao _eauthor |
| 700 | 1 | 0 |
_a Li, Hongmei _eauthor |
| 700 | 1 | 0 |
_a Yao, Zhi-Rong _eauthor |
| 700 | 1 | 0 |
_a Zhuang, Yin _eauthor |
| 700 | 1 | 0 |
_a Li, Ming _eauthor |
| 245 | 0 | 0 | _aDeep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family |
| 260 | _c2021. | ||
| 500 | _a98 | ||
| 520 | _aBackground: Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome comprise a rare genodermatosis associated with biallelic (homozygous or compound heterozygous) mutations in the DSG1 (desmoglein-1) gene, or heterozygous mutations in the DSP (desmoplakin) gene. To date, while many patients with SAM syndrome have been described, the number of cases with SAM syndrome with deep-intronic variants, together its genetic aetiology, remain limited. Objectives: We report the case of a five-year-old Chinese boy with atypical SAM syndrome. Materials & Methods: Relevant blood specimens from the family were collected. DNA isolation, RNA isolation and cDNA synthesis, and next-generation sequencing using a multi-gene panel were applied to verify the pathogenic gene. To test the functional consequences and pathogenic mechanism of the deep-intronic mutation in vitro, a mini gene strategy was constructed. Results: A heterozygous DSG1 deletion (c.2437_2450delACCTATCCCTCGGG: p.Tyr814Trpfs*6) and a deep-intronic (c.1688-30A > T) variant were identified. The identified intronic variant was shown to create an alternative splice site, leading to nonsense-mediated mRNA decay of the aberrant transcript. Conclusion: This is the first study to demonstrate a causal role for a deep-intronic DSG1 mutation in a patient with SAM syndrome. Our findings underline the need to analyse the intronic regions of DSG1 in patients with SAM syndrome. Improved diagnosis and a better understanding of prognosis will lead to clearer a picture of the concept of atypical SAM syndrome. | ||
| 690 | _adeep-intronic mutation | ||
| 690 | _aDSG1 variants | ||
| 690 | _agenodermatosis | ||
| 690 | _aminigenes | ||
| 786 | 0 | _nEuropean Journal of Dermatology | 31 | 2 | 2021-03-01 | p. 239-244 | 1167-1122 | |
| 856 | 4 | 1 | _uhttps://shs.cairn.info/revue-european-journal-of-dermatology-2021-2-page-239?lang=en&redirect-ssocas=7080 |
| 999 |
_c603246 _d603246 |
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