التفاصيل البيبلوغرافية
| العنوان: |
APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature |
| المؤلفون: |
Flavia Privitera, Flavia Piccini, Maria Paola Recalcati, Silvia Presi, Silvia Mazzola, Paola Carrera |
| المصدر: |
Genes; Volume 14; Issue 7; Pages: 1505 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2023 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
5q deletion syndrome, array-CGH, KCNN2, intellectual disability |
| جغرافية الموضوع: |
agris |
| الوصف: |
The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying KCNN2 (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14071505 |
| DOI: |
10.3390/genes14071505 |
| الاتاحة: |
https://doi.org/10.3390/genes14071505 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.6ADC1281 |
| قاعدة البيانات: |
BASE |