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Spectrum of Lysosomal Storage Disease Targeted for Newborn Screening in Vietnam
Dung, Vu Chi,Ngoc, Can Thi Bich,Khanh, Nguyen Ngoc,Mai, Do Thi Thanh,Thao, Bui Phuong,Mai, Tran Thi Chi,Ha, Nguyen Thu,Huong, Nguyen Thi Mai,Nam, Nguyen Hoang,Hai, Le Thanh,Tomatsu, Shunji,Yoo, Han-Wo Association for Research of MPS and Rare Diseases 2017 Journal of mucopolysaccharidosis and rare disease Vol.3 No.1
Thu Hien Nguyen,Ngoc‑Lan Nguyen,Chi Dung Vu,Can Thi Bich Ngoc,Ngoc Khanh Nguyen,Huy Hoang Nguyen 한국유전학회 2021 Genes & Genomics Vol.43 No.2
Background Primordial dwarfsm (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 preand 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 identifed 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 defciency of protein functional activity and result in the phenotypes of primordial dwarfsm in the two patients. Conclusions Clinical presentations in combination with genetic analyses supported an accurate diagnosis of the two patients with microcephalic osteodysplastic primordial dwarfsm type II (MOPD II). In addition, these results have important implications for prenatal genetic screening and genetic counseling for the families.