Evidence map›Paper›PMID 31325247›Full record

ArticleMolecular genetics & genomic medicine2019

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.

Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus and 2 more

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Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 53% of its field
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors at 1 institution in 1 country.

Evelina SiavrienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.ORCID 0000-0003-3110-4059
Violeta MikštienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Darius RadzevičiusThe Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Živilė MaldžienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Tautvydas RančelisDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Gunda PetraitytėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Giedrė TamulytėFaculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ingrida KavaliauskienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Laurynas ŠarkinasThe Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Algirdas UtkusDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Vaidutis KučinskasDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Eglė PreikšaitienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Vilnius University · LT

Funding

CLINICAL ONCOLOGY RESEARCH CAREER DEVELOPMENTK12CA001719 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI MILLER, DONALD M · 1992 to 1996
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6 · The paper itself

Abstract

backgroundPreaxial polydactyly type IV, also referred as polysyndactyly, has been described in a few syndromes. We present three generations of a family with preaxial polydactyly type IV and other clinical features of Greig cephalopolysyndactyly syndrome (GCPS). METHODS AND

resultsSequencing analysis of the GLI3 coding region identified a novel donor splice site variant NC_000007.14(NM_000168.6):c.473+3A>T in the proband and the same pathogenic variant was subsequently identified in other affected family members. Functional analysis based on Sanger sequencing of the proband's complementary DNA (cDNA) sample revealed that the splice site variant c.473+3A>T disrupts the original donor splice site, thus leading to exon 4 skipping. Based on further in silico analysis, this pathogenic splice site variant consequently results in a truncated protein NP_000159.3:p.(His123Argfs*57), which lacks almost all functionally important domains. Therefore, functional cDNA analysis confirmed that the haploinsufficiency of the GLI3 is the cause of GCPS in the affected family members.

conclusionDespite the evidence provided, pathogenic variants in the GLI3 do not always definitely correlate with syndromic or nonsyndromic clinical phenotypes associated with this gene. For this reason, further transcriptomic and proteomic evaluation could be suggested.

Indexed as

AcrocephalosyndactyliaChildDNA, ComplementaryFemaleGenetic Predisposition to DiseaseHumansMiddle AgedMutationNerve Tissue ProteinsPedigreePhenotypeProteomicsSequence Analysis, DNATranscriptomeZinc Finger Protein Gli3DNA, ComplementaryGLI3 protein, humanNerve Tissue ProteinsZinc Finger Protein Gli3functional cDNA analysisGLI3Greig cephalopolysyndactyly syndromepolysyndactylypreaxial polydactyly type IV

Identifiers

PMID31325247
PMCPMC6732282
OpenAlexW2964270769

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LicenceCC BY-NC-ND
Read underepoch 390

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.