FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3033384196> ?p ?o ?g. }

• W3033384196 abstract "Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive and skeletal disorder included wide spectrum of clinical abnormalities such as fetal growth restriction, disproportionate face, microcephaly, post-natal growth retardation, adult height under 100cm, abnormal skin pigmentation, insulin resistance, and susceptibility to cerebrovascular and hematologic abnormalities. Due to heterogeneous feature of MOPDs diseases and common clinical features among the different subtypes, mutation analysis can be considered as fundamental in the accurate diagnosis and confirmation of the MOPDII disease. Some studies revealed that, variants of gene encoding Pericentrin protein, PCNT, were associated with MOPDII. Methods: We performed whole exome sequencing based on the next generation sequencing (Illumina platform), to perform correct diagnosis in a 17-year-old girl with an unknown disease who was referred to the Diabetes Research Center in Yazd, Iran. The clinical features of the patient were short stature, generalized brachydactyly, gradual deterioration of brain functioning, menstrual irregularity, clitoromegaly, acanthosis nigricans, diabetes mellitus, hyperinsulinemia, insulin resistance, and dyslipidemia. Accordingly, her parents were also first cousin with no background disease. After identifying the novel variant, it was confirmed in the proband and her family using bi-directional Sanger sequencing, and its pathogenicity was also checked by different online tools. Results: Our study revealed a novel frame-shift variant in PCNT gene (c.7511delA, p.K2504Sfs*27), which causes premature termination of Pericentrin protein. The result disclosed that, the proband was affected by MOPDII disease. In addition, the Sanger sequencing confirmed the novel homozygote variant in the proband and heterozygote one in her parents, and the extended family perfectly segregated among them. Online tools such as Varsome and MutationTaster also showed a high level of pathogenicity for the variant identified. Conclusion: A novel variant was identified in the proband and her extended family, which emphasized the importance of PCNT gene mutations analysis in the screening and accurate identification of MOPD II disease, especially in prenatal diagnosis." @default.
• W3033384196 created "2020-06-12" @default.
• W3033384196 creator A5040827457 @default.
• W3033384196 creator A5040859282 @default.
• W3033384196 creator A5083466626 @default.
• W3033384196 creator A5086321960 @default.
• W3033384196 date "2020-06-25" @default.
• W3033384196 modified "2023-09-27" @default.
• W3033384196 title "A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)" @default.
• W3033384196 cites W155481001 @default.
• W3033384196 cites W1577456165 @default.
• W3033384196 cites W1960867768 @default.
• W3033384196 cites W1963583294 @default.
• W3033384196 cites W1976809737 @default.
• W3033384196 cites W1980886061 @default.
• W3033384196 cites W1984068087 @default.
• W3033384196 cites W1996057356 @default.
• W3033384196 cites W1997332784 @default.
• W3033384196 cites W2006691363 @default.
• W3033384196 cites W2026260101 @default.
• W3033384196 cites W2028108640 @default.
• W3033384196 cites W2033477189 @default.
• W3033384196 cites W2041113242 @default.
• W3033384196 cites W2064756341 @default.
• W3033384196 cites W2081772982 @default.
• W3033384196 cites W2093204893 @default.
• W3033384196 cites W2102747560 @default.
• W3033384196 cites W2103441770 @default.
• W3033384196 cites W2106995317 @default.
• W3033384196 cites W2108234281 @default.
• W3033384196 cites W2114996931 @default.
• W3033384196 cites W2119180969 @default.
• W3033384196 cites W2144828805 @default.
• W3033384196 cites W2145489844 @default.
• W3033384196 cites W2151429574 @default.
• W3033384196 cites W2162929473 @default.
• W3033384196 cites W2334436386 @default.
• W3033384196 cites W2468887307 @default.
• W3033384196 cites W2606362704 @default.
• W3033384196 cites W2891792152 @default.
• W3033384196 cites W2906236958 @default.
• W3033384196 cites W2917327135 @default.
• W3033384196 cites W2924758016 @default.
• W3033384196 cites W2971784280 @default.
• W3033384196 cites W3014312008 @default.
• W3033384196 cites W89760850 @default.
• W3033384196 cites W954754213 @default.
• W3033384196 doi "https://doi.org/10.3389/fped.2020.00340" @default.
• W3033384196 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7330014" @default.
• W3033384196 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32671003" @default.
• W3033384196 hasPublicationYear "2020" @default.
• W3033384196 type Work @default.
• W3033384196 sameAs 3033384196 @default.
• W3033384196 citedByCount "4" @default.
• W3033384196 countsByYear W30333841962021 @default.
• W3033384196 countsByYear W30333841962022 @default.
• W3033384196 countsByYear W30333841962023 @default.
• W3033384196 crossrefType "journal-article" @default.
• W3033384196 hasAuthorship W3033384196A5040827457 @default.
• W3033384196 hasAuthorship W3033384196A5040859282 @default.
• W3033384196 hasAuthorship W3033384196A5083466626 @default.
• W3033384196 hasAuthorship W3033384196A5086321960 @default.
• W3033384196 hasBestOaLocation W30333841961 @default.
• W3033384196 hasConcept C104317684 @default.
• W3033384196 hasConcept C16671776 @default.
• W3033384196 hasConcept C188997412 @default.
• W3033384196 hasConcept C2776395126 @default.
• W3033384196 hasConcept C501734568 @default.
• W3033384196 hasConcept C54355233 @default.
• W3033384196 hasConcept C60644358 @default.
• W3033384196 hasConcept C71924100 @default.
• W3033384196 hasConcept C76818968 @default.
• W3033384196 hasConcept C86803240 @default.
• W3033384196 hasConceptScore W3033384196C104317684 @default.
• W3033384196 hasConceptScore W3033384196C16671776 @default.
• W3033384196 hasConceptScore W3033384196C188997412 @default.
• W3033384196 hasConceptScore W3033384196C2776395126 @default.
• W3033384196 hasConceptScore W3033384196C501734568 @default.
• W3033384196 hasConceptScore W3033384196C54355233 @default.
• W3033384196 hasConceptScore W3033384196C60644358 @default.
• W3033384196 hasConceptScore W3033384196C71924100 @default.
• W3033384196 hasConceptScore W3033384196C76818968 @default.
• W3033384196 hasConceptScore W3033384196C86803240 @default.
• W3033384196 hasLocation W30333841961 @default.
• W3033384196 hasLocation W30333841962 @default.
• W3033384196 hasLocation W30333841963 @default.
• W3033384196 hasLocation W30333841964 @default.
• W3033384196 hasOpenAccess W3033384196 @default.
• W3033384196 hasPrimaryLocation W30333841961 @default.
• W3033384196 hasRelatedWork W1980117883 @default.
• W3033384196 hasRelatedWork W3001328357 @default.
• W3033384196 hasRelatedWork W3040225574 @default.
• W3033384196 hasRelatedWork W3136947500 @default.
• W3033384196 hasRelatedWork W3157589997 @default.
• W3033384196 hasRelatedWork W4200105762 @default.
• W3033384196 hasRelatedWork W4255876850 @default.
• W3033384196 hasRelatedWork W4283585067 @default.
• W3033384196 hasRelatedWork W4284991896 @default.
• W3033384196 hasRelatedWork W4367334404 @default.
• W3033384196 hasVolume "8" @default.

• next