Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome
ObjectiveTo screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.MethodsAfter obtaining informed consent, we collected the patient's medical histor...
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| Format: | Article |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Behavioral Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnbeh.2022.987259/full |
| _version_ | 1811275079642775552 |
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| author | Xuemei He Xiuli Ma Jing Wang Zhuo Zou Haoyu Huang Jian Ren Chunming Liu Nan Zheng Jing Ma Yun Liu |
| author_facet | Xuemei He Xiuli Ma Jing Wang Zhuo Zou Haoyu Huang Jian Ren Chunming Liu Nan Zheng Jing Ma Yun Liu |
| author_sort | Xuemei He |
| collection | DOAJ |
| description | ObjectiveTo screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.MethodsAfter obtaining informed consent, we collected the patient's medical history and carried out physical and laboratory examinations for the NSLH2 proband and the family members. Genomic DNA was extracted from the peripheral blood of all individuals. The coding regions including all pathogenic exons, parts of introns, and promoters of genes were sequenced by next-generation sequencing. Pathogenic mutations, which were detected in the probands and their parents, were verified by Sanger sequencing.ResultsThe clinical manifestations of NSLH2 included prominent forehead, yellowish hair, slightly wide eye distance, sparse eyebrows, bilateral auricle deformity, reduced muscle tension, and cardiac and visual abnormalities. The proband carried a c.371A>G mutation in exon 3 of PPP1CB, which is a missense mutation. This was a de novo mutation as the parents of the proband showed no mutation at this site.ConclusionIn this study, we identified a novel mutation of PPP1CB, which enriched the mutation spectrum of the PPP1CB gene and provided a basis for the diagnosis of NSLH2. |
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| institution | Directory Open Access Journal |
| issn | 1662-5153 |
| language | English |
| last_indexed | 2024-04-12T23:31:36Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Behavioral Neuroscience |
| spelling | doaj.art-8abff744080f4c728e8ff95677e67b5e2022-12-22T03:12:16ZengFrontiers Media S.A.Frontiers in Behavioral Neuroscience1662-51532022-09-011610.3389/fnbeh.2022.987259987259Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndromeXuemei He0Xiuli Ma1Jing Wang2Zhuo Zou3Haoyu Huang4Jian Ren5Chunming Liu6Nan Zheng7Jing Ma8Yun Liu9Department of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaDepartment of Rehabilitation, Kunming Children's Hospital, Kunming Medical University, Yunnan, ChinaObjectiveTo screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.MethodsAfter obtaining informed consent, we collected the patient's medical history and carried out physical and laboratory examinations for the NSLH2 proband and the family members. Genomic DNA was extracted from the peripheral blood of all individuals. The coding regions including all pathogenic exons, parts of introns, and promoters of genes were sequenced by next-generation sequencing. Pathogenic mutations, which were detected in the probands and their parents, were verified by Sanger sequencing.ResultsThe clinical manifestations of NSLH2 included prominent forehead, yellowish hair, slightly wide eye distance, sparse eyebrows, bilateral auricle deformity, reduced muscle tension, and cardiac and visual abnormalities. The proband carried a c.371A>G mutation in exon 3 of PPP1CB, which is a missense mutation. This was a de novo mutation as the parents of the proband showed no mutation at this site.ConclusionIn this study, we identified a novel mutation of PPP1CB, which enriched the mutation spectrum of the PPP1CB gene and provided a basis for the diagnosis of NSLH2.https://www.frontiersin.org/articles/10.3389/fnbeh.2022.987259/fullPPP1CBNoonan syndrome with loose anagen hair-2developmental delaynext-novel mutation of the PPP1CB gene 2 generation sequencingDNA mutation analysis |
| spellingShingle | Xuemei He Xiuli Ma Jing Wang Zhuo Zou Haoyu Huang Jian Ren Chunming Liu Nan Zheng Jing Ma Yun Liu Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome Frontiers in Behavioral Neuroscience PPP1CB Noonan syndrome with loose anagen hair-2 developmental delay next-novel mutation of the PPP1CB gene 2 generation sequencing DNA mutation analysis |
| title | Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome |
| title_full | Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome |
| title_fullStr | Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome |
| title_full_unstemmed | Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome |
| title_short | Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome |
| title_sort | case report identification and clinical phenotypic analysis of novel mutation of the ppp1cb gene in nslh2 syndrome |
| topic | PPP1CB Noonan syndrome with loose anagen hair-2 developmental delay next-novel mutation of the PPP1CB gene 2 generation sequencing DNA mutation analysis |
| url | https://www.frontiersin.org/articles/10.3389/fnbeh.2022.987259/full |
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