Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review
Abstract Background Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations have been identified as one of the genetic causes of inherited AN. C...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-01-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-019-0748-4 |
| _version_ | 1828965543039729664 |
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| author | Junling Fu Yiting Zhao Tong Wang Qian Zhang Xinhua Xiao |
| author_facet | Junling Fu Yiting Zhao Tong Wang Qian Zhang Xinhua Xiao |
| author_sort | Junling Fu |
| collection | DOAJ |
| description | Abstract Background Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations have been identified as one of the genetic causes of inherited AN. Case presentation A 17-year-old Chinese female had presented generalized acanthosis nigricans since she was 4 years old. She yielded no family history of short stature or AN. Apart from a short stature, no skeletal defects, neurological defects or other abnormalities were found. To identify the aetiology of the clinically diagnosed AN, we screened the proband for genetic mutations using whole exome sequencing. A heterozygous mutation (c.1949A > C, p.Lys650Thr) in FGFR3 was found in the proband. To date, 26 cases of AN harbouring this specific gene mutation have been reported in the literature, and only one child carried a de novo mutation instead of inheriting the specific mutation from their parents. The present case is the first-reported Chinese patient with isolated AN with a de novo K650 T mutation in FGFR3. Conclusions We reported a new case of AN caused by a heterozygous mutation (c.1949A > C, p.K650 T) in FGFR3, and review the past reports of AN with the same gene mutation. Sequencing of the FGFR3 gene is a feasible approach to identify the aetiology of AN, especially for early onset extensive AN. |
| first_indexed | 2024-12-14T11:12:22Z |
| format | Article |
| id | doaj.art-788862b3add844059dd78a49f81e8e82 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-14T11:12:22Z |
| publishDate | 2019-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-788862b3add844059dd78a49f81e8e822022-12-21T23:04:13ZengBMCBMC Medical Genetics1471-23502019-01-012011610.1186/s12881-019-0748-4Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature reviewJunling Fu0Yiting Zhao1Tong Wang2Qian Zhang3Xinhua Xiao4Department of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College HospitalDepartment of Center of PET-CT, Chinese Academy of Medical Sciences Cancer Institute and HospitalDepartment of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College HospitalDepartment of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College HospitalDepartment of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College HospitalAbstract Background Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations have been identified as one of the genetic causes of inherited AN. Case presentation A 17-year-old Chinese female had presented generalized acanthosis nigricans since she was 4 years old. She yielded no family history of short stature or AN. Apart from a short stature, no skeletal defects, neurological defects or other abnormalities were found. To identify the aetiology of the clinically diagnosed AN, we screened the proband for genetic mutations using whole exome sequencing. A heterozygous mutation (c.1949A > C, p.Lys650Thr) in FGFR3 was found in the proband. To date, 26 cases of AN harbouring this specific gene mutation have been reported in the literature, and only one child carried a de novo mutation instead of inheriting the specific mutation from their parents. The present case is the first-reported Chinese patient with isolated AN with a de novo K650 T mutation in FGFR3. Conclusions We reported a new case of AN caused by a heterozygous mutation (c.1949A > C, p.K650 T) in FGFR3, and review the past reports of AN with the same gene mutation. Sequencing of the FGFR3 gene is a feasible approach to identify the aetiology of AN, especially for early onset extensive AN.http://link.springer.com/article/10.1186/s12881-019-0748-4Acanthosis nigricansFGFR3Mutation |
| spellingShingle | Junling Fu Yiting Zhao Tong Wang Qian Zhang Xinhua Xiao Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review BMC Medical Genetics Acanthosis nigricans FGFR3 Mutation |
| title | Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review |
| title_full | Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review |
| title_fullStr | Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review |
| title_full_unstemmed | Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review |
| title_short | Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review |
| title_sort | acanthosis nigricans in a chinese girl with fgfr3 k650 t mutation a case report and literature review |
| topic | Acanthosis nigricans FGFR3 Mutation |
| url | http://link.springer.com/article/10.1186/s12881-019-0748-4 |
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