Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
Abstract Background The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. Case presentation A total of four patients f...
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| Format: | Article |
| Language: | English |
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BMC
2019-07-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-019-0856-1 |
| _version_ | 1819161680453566464 |
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| author | Guo-min Li Hai-mei Liu Wan-zhen Guan Hong Xu Bing-bing Wu Li Sun |
| author_facet | Guo-min Li Hai-mei Liu Wan-zhen Guan Hong Xu Bing-bing Wu Li Sun |
| author_sort | Guo-min Li |
| collection | DOAJ |
| description | Abstract Background The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. Case presentation A total of four patients from two families were included. The average age at onset was 5.9 years. All patients had no signs of eye or skin problems, such as uveitis, rash, folliculitis and dermal abscess. Prior to the recognition of HA20, P1 was diagnosed with SLE, liver fibrosis and hypothyroidism. She also had no oral, genital or perineal ulcers. P2 was diagnosed with Crohn’s disease and inflammatory bowel disease-related arthritis (IBD-RA). He had a perianal abscess but no oral or genital ulcers. P3, the father of P1 and P2, only had mild oral ulcers, arthralgia, and archosyrinx. P4 was diagnosed with polyarticular juvenile idiopathic arthritis (JIA), macrophage activation syndrome (MAS) and interstitial lung disease (ILD). Whole exome sequencing (WES) was performed in two families. WES revealed heterozygous c.559C > T in the TNFAIP3 gene in P1, P2 and P3, while the c.259C > T mutation in the TNFAIP3 gene was identified in P4. The c.259C > T mutations is novel. Conclusion HA20 had a different phenotype between families and even between family members with the same mutation. Liver fibrosis, hypothyroidism, ILD and MAS in the patients with HA20 were first reported in this study. Our results expanded the phenotype and genotype spectrum of A20 haploinsufficiency. |
| first_indexed | 2024-12-22T17:16:12Z |
| format | Article |
| id | doaj.art-3f4d3944825247fc837eac6786024abd |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-22T17:16:12Z |
| publishDate | 2019-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-3f4d3944825247fc837eac6786024abd2022-12-21T18:18:58ZengBMCBMC Medical Genetics1471-23502019-07-012011710.1186/s12881-019-0856-1Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases reportGuo-min Li0Hai-mei Liu1Wan-zhen Guan2Hong Xu3Bing-bing Wu4Li Sun5Department of Rheumatology, Children’s Hospital of Fudan UniversityDepartment of Rheumatology, Children’s Hospital of Fudan UniversityDepartment of Rheumatology, Children’s Hospital of Fudan UniversityDepartment of Rheumatology, Children’s Hospital of Fudan UniversityMedical Transformation Centre, Children’s Hospital of Fudan UniversityDepartment of Rheumatology, Children’s Hospital of Fudan UniversityAbstract Background The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. Case presentation A total of four patients from two families were included. The average age at onset was 5.9 years. All patients had no signs of eye or skin problems, such as uveitis, rash, folliculitis and dermal abscess. Prior to the recognition of HA20, P1 was diagnosed with SLE, liver fibrosis and hypothyroidism. She also had no oral, genital or perineal ulcers. P2 was diagnosed with Crohn’s disease and inflammatory bowel disease-related arthritis (IBD-RA). He had a perianal abscess but no oral or genital ulcers. P3, the father of P1 and P2, only had mild oral ulcers, arthralgia, and archosyrinx. P4 was diagnosed with polyarticular juvenile idiopathic arthritis (JIA), macrophage activation syndrome (MAS) and interstitial lung disease (ILD). Whole exome sequencing (WES) was performed in two families. WES revealed heterozygous c.559C > T in the TNFAIP3 gene in P1, P2 and P3, while the c.259C > T mutation in the TNFAIP3 gene was identified in P4. The c.259C > T mutations is novel. Conclusion HA20 had a different phenotype between families and even between family members with the same mutation. Liver fibrosis, hypothyroidism, ILD and MAS in the patients with HA20 were first reported in this study. Our results expanded the phenotype and genotype spectrum of A20 haploinsufficiency.http://link.springer.com/article/10.1186/s12881-019-0856-1A20 haploinsufficiencyHypothyroidismInterstitial lung diseaseLiver fibrosisMacrophage activation syndromeTNFAIP3 gene |
| spellingShingle | Guo-min Li Hai-mei Liu Wan-zhen Guan Hong Xu Bing-bing Wu Li Sun Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report BMC Medical Genetics A20 haploinsufficiency Hypothyroidism Interstitial lung disease Liver fibrosis Macrophage activation syndrome TNFAIP3 gene |
| title | Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report |
| title_full | Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report |
| title_fullStr | Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report |
| title_full_unstemmed | Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report |
| title_short | Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report |
| title_sort | expanding the spectrum of a20 haploinsufficiency in two chinese families cases report |
| topic | A20 haploinsufficiency Hypothyroidism Interstitial lung disease Liver fibrosis Macrophage activation syndrome TNFAIP3 gene |
| url | http://link.springer.com/article/10.1186/s12881-019-0856-1 |
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