Cohen syndrome combined with psychiatric symptoms: a case report
Abstract Background Cohen syndrome (CS) is a rare autosomal recessive inherited condition characterized by pathological changes affecting multiple systems. The extensive clinical variability associated with CS poses a significant diagnostic challenge. Additionally, there is limited documentation on...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-03-01
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| Series: | BMC Psychiatry |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12888-024-05626-1 |
| _version_ | 1797273679703310336 |
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| author | Xinming Li Sufang Qi Wenjie Li Xin Liu Zhicheng Xue Tiangui Yu Guanglei Xun |
| author_facet | Xinming Li Sufang Qi Wenjie Li Xin Liu Zhicheng Xue Tiangui Yu Guanglei Xun |
| author_sort | Xinming Li |
| collection | DOAJ |
| description | Abstract Background Cohen syndrome (CS) is a rare autosomal recessive inherited condition characterized by pathological changes affecting multiple systems. The extensive clinical variability associated with CS poses a significant diagnostic challenge. Additionally, there is limited documentation on the co-occurrence of CS with psychiatric symptoms. Case report We report a case of a 30-year-old patient exhibiting characteristic physical features and psychiatric symptoms. Whole exome sequencing identified two heterozygous variants, a nonsense variation c.4336 C > T and a missense mutation c.4729G > A. Integrating clinical manifestations with genetic test results, we established the diagnosis of CS combined with psychiatric symptoms. Conclusions This case introduces a novel missense variant as a candidate in the expanding array of VPS13B pathogenic variants. Its clinical significance remains unknown, and further investigation may broaden the spectrum of pathogenic variants associated with the VPS13B gene. Early diagnosis of CS is crucial for the prognosis of young children and holds significant importance for their families. |
| first_indexed | 2024-03-07T14:47:48Z |
| format | Article |
| id | doaj.art-912f8d0b45a5418bac27e6dfad0dd1ad |
| institution | Directory Open Access Journal |
| issn | 1471-244X |
| language | English |
| last_indexed | 2024-03-07T14:47:48Z |
| publishDate | 2024-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Psychiatry |
| spelling | doaj.art-912f8d0b45a5418bac27e6dfad0dd1ad2024-03-05T19:53:31ZengBMCBMC Psychiatry1471-244X2024-03-012411510.1186/s12888-024-05626-1Cohen syndrome combined with psychiatric symptoms: a case reportXinming Li0Sufang Qi1Wenjie Li2Xin Liu3Zhicheng Xue4Tiangui Yu5Guanglei Xun6Shandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityShandong Mental Health Center, Shandong UniversityAbstract Background Cohen syndrome (CS) is a rare autosomal recessive inherited condition characterized by pathological changes affecting multiple systems. The extensive clinical variability associated with CS poses a significant diagnostic challenge. Additionally, there is limited documentation on the co-occurrence of CS with psychiatric symptoms. Case report We report a case of a 30-year-old patient exhibiting characteristic physical features and psychiatric symptoms. Whole exome sequencing identified two heterozygous variants, a nonsense variation c.4336 C > T and a missense mutation c.4729G > A. Integrating clinical manifestations with genetic test results, we established the diagnosis of CS combined with psychiatric symptoms. Conclusions This case introduces a novel missense variant as a candidate in the expanding array of VPS13B pathogenic variants. Its clinical significance remains unknown, and further investigation may broaden the spectrum of pathogenic variants associated with the VPS13B gene. Early diagnosis of CS is crucial for the prognosis of young children and holds significant importance for their families.https://doi.org/10.1186/s12888-024-05626-1Cohen syndromePsychiatric symptomsGene mutation |
| spellingShingle | Xinming Li Sufang Qi Wenjie Li Xin Liu Zhicheng Xue Tiangui Yu Guanglei Xun Cohen syndrome combined with psychiatric symptoms: a case report BMC Psychiatry Cohen syndrome Psychiatric symptoms Gene mutation |
| title | Cohen syndrome combined with psychiatric symptoms: a case report |
| title_full | Cohen syndrome combined with psychiatric symptoms: a case report |
| title_fullStr | Cohen syndrome combined with psychiatric symptoms: a case report |
| title_full_unstemmed | Cohen syndrome combined with psychiatric symptoms: a case report |
| title_short | Cohen syndrome combined with psychiatric symptoms: a case report |
| title_sort | cohen syndrome combined with psychiatric symptoms a case report |
| topic | Cohen syndrome Psychiatric symptoms Gene mutation |
| url | https://doi.org/10.1186/s12888-024-05626-1 |
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