دورية أكاديمية
Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
| العنوان: | Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II. |
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| المؤلفون: | Nguyen TH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam.; Graduate University of Sciences and Technology, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Vu CD; Department of Medical Genetics, Metabolism and Endocrinology, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi, 100000, Vietnam., Ngoc CTB; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam., Nguyen NK; Department of Medical Genetics, Metabolism and Endocrinology, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi, 100000, Vietnam., Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam. nhhoang@igr.ac.vn.; Graduate University of Sciences and Technology, Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Hanoi, 100000, Vietnam. nhhoang@igr.ac.vn. |
| المصدر: | Genes & genomics [Genes Genomics] 2021 Feb; Vol. 43 (2), pp. 115-121. Date of Electronic Publication: 2021 Jan 18. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Seoul : The Korean Society of Genetics, 2008- |
| مواضيع طبية MeSH: | Antigens/*genetics , Dwarfism/*genetics , Fetal Growth Retardation/*genetics , Microcephaly/*genetics , Osteochondrodysplasias/*genetics, Child ; Child, Preschool ; Dwarfism/pathology ; Fetal Growth Retardation/pathology ; Humans ; Male ; Microcephaly/pathology ; Mutation ; Osteochondrodysplasias/pathology ; Phenotype |
| مستخلص: | Background: Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain. Objective: To determine the exact cause of the disease in two Vietnamese patients priory diagnosed with PD by severe pre-and postnatal growth retardation with marked microcephaly and some bone abnormalities. Methods: Whole-exome sequencing was performed for the two patients and mutations in genes related to PD were screened. Sanger sequencing was applied to examine the mutations in the patients of their families. Results: Three novel mutations in the PCNT gene which have not been reported previously were identified in the two patients. Of which, two frameshift mutations (p.Thr479Profs*6 and p.Glu2742Alafs*8) were detected in patient I and one stop-gained mutation (p.Gln1907*) was detected in the patient II. These mutations may result in a truncated PCNT protein, leading to an inactivated PACT domain corresponding to residue His3138-Trp3216 of PCNT protein. Therefore, the three mutations may cause a deficiency of protein functional activity and result in the phenotypes of primordial dwarfism in the two patients. Conclusions: Clinical presentations in combination with genetic analyses supported an accurate diagnosis of the two patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). In addition, these results have important implications for prenatal genetic screening and genetic counseling for the families. |
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| فهرسة مساهمة: | Keywords: MOPD II; Microcephaly; PCNT gene; Primordial dwarfism |
| المشرفين على المادة: | 0 (Antigens) 0 (pericentrin) |
| SCR Disease Name: | Microcephalic Osteodysplastic Primordial Dwarfism, Type II |
| تواريخ الأحداث: | Date Created: 20210118 Date Completed: 20211217 Latest Revision: 20211217 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1007/s13258-020-01032-5 |
| PMID: | 33460028 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2092-9293 |
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| DOI: | 10.1007/s13258-020-01032-5 |