التفاصيل البيبلوغرافية
| العنوان: |
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features |
| المؤلفون: |
Sachwitz, Jana, Meyer, Robert, Fekete, György, Spranger, Stephanie, Matulevičienė, Aušra, Kučinskas, Vaidutis, Bach, Alexia, Luczay, Andrea, Brüchle, Nadina Ortiz, Eggermann, Katja, Zerres, Klaus, Elbracht, Miriam, Eggermann, Thomas |
| المصدر: |
Clinical Genetics, Hoboken, NJ : Wiley-Blackwell Publishing, Inc., 2017, Vol. 91, Iss. 1, p. 73-78 ; ISSN 0009-9163 ; eISSN 1399-0004 |
| سنة النشر: |
2017 |
| المجموعة: |
LSRC VL (Lithuanian Social Research Centre Virtual Library) / LSTC VB (Lietuvos socialinių tyrimų centras virtualią biblioteką) |
| مصطلحات موضوعية: |
Silver-Russell syndrome, copy number variations, Temple syndrome, NSD1 duplication |
| الوصف: |
Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show a hypomethylation in 11p15.5, in 10% maternal uniparental disomy of chromosome 7 is present. A significant number of patients with SRS features also exhibit chromosomal aberrations. We analysed 43 individuals referred for SRS genetic testing by molecular karyotyping. Pathogenic variants could be detected in five of them, including a NSD1 duplication in 5q35 and a 14q32 microdeletion. NSD1 deletions are detectable in overgrowth disorders (Sotos, Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associated with growth retardation. The 14q32 deletion is typically associated with Temple syndrome (TS14), but the identification of a patient in our cohort reflects the clinical overlap between TS14 and SRS. As determination of molecular subtypes is the basis for a directed counselling and therapy, the identification of pathogenic variants in >10% of the total cohort of patients referred for SRS testing and in >16% of characteristic individuals with the characteristic SRS phenotype confirms the need to apply molecular karyotyping in this cohort. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| Relation: |
http://vu.lvb.lt/VU:ELABAPDB16029077&prefLang=en_US |
| الاتاحة: |
http://vu.lvb.lt/VU:ELABAPDB16029077&prefLang=en_US |
| رقم الانضمام: |
edsbas.39E5088 |
| قاعدة البيانات: |
BASE |