دورية أكاديمية
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients
| العنوان: | Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients |
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| المؤلفون: | Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif |
| المصدر: | Heliyon, Vol 10, Iss 1, Pp e23688- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Science (General) LCC:Social sciences (General) |
| مصطلحات موضوعية: | Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99 |
| الوصف: | Brachyolmia is a heterogeneous group of developmental disorders characterized by a short trunk, short stature, scoliosis, and generalized platyspondyly without significant deformities in the long bones. DASS (Dental Abnormalities and Short Stature), caused by alterations in the LTBP3 gene, was previously considered as a subtype of brachyolmia.The present study investigated three unrelated consanguineous families (A, B, C) with Brachyolmia and DASS from Egypt and Pakistan. In our Egyptian patients, we also observed hearing impairment. Exome sequencing was performed to determine the genetic causes of the diverse clinical conditions in the patients. Exome sequencing identified a novel homozygous splice acceptor site variant (LTBP3:c.3629-1G > T; p. ?) responsible for DASS phenotypes and a known homozygous missense variant (CABP2: c.590T > C; p.Ile197Thr) causing hearing impairment in the Egyptian patients. In addition, two previously reported homozygous frameshift variants (LTBP3:c.132delG; p.Pro45Argfs*25) and (LTBP3:c.2216delG; p.Gly739Alafs*7) were identified in Pakistani patients.This study emphasizes the vital role of LTBP3 in the axial skeleton and tooth morphogenesis and expands the mutational spectrum of LTBP3. We are reporting LTBP3 variants in seven patients of three families, majorly causing brachyolmia with dental and cardiac anomalies. Skeletal assessment documented short webbed neck, broad chest, evidences of mild long bones involvement, short distal phalanges, pes planus and osteopenic bone texture as additional associated findings expanding the clinical phenotype of DASS. The current study reveals that the hearing impairment phenotype in Egyptian patients of family A has a separate transmission mechanism independent of LTBP3. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2405-8440 |
| العلاقة: | http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test |
| DOI: | 10.1016/j.heliyon.2023.e23688 |
| الوصول الحر: | https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test |
| رقم الانضمام: | edsdoj.0f91f966fd7d4676bcf74cad84128e34 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 24058440 |
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| DOI: | 10.1016/j.heliyon.2023.e23688 |