| Autor: |
David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2090-2441 |
| DOI: |
10.1186/s43042-023-00462-6 |
| Popis: |
Abstract Background The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its alteration produces a phenotype that has yet to be fully defined. Case presentation We present the case of a patient diagnosed with a deletion in the SHANK2 gene as an infant and its subsequent evolution, including a description and iconography of the phenotype. Similar copy number variations (CNVs) are described in the literature, but none with the length of our patient's copy number. Conclusions This work broadens the phenotypic and genotypic spectrum associated with the SHANK2 gene, which promotes the genetic diagnosis of the disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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