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FGF3 related phenotypes : A study of lamm syndrome and otodental dysplasia patients with two novel mutations in FGF3 genee

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dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorARMAN, AHMET
dc.contributor.authorsTÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., ZENGİN G., ARSLAN ATEŞ E., ARMAN A.
dc.date.accessioned2023-03-06T11:00:33Z
dc.date.available2023-03-06T11:00:33Z
dc.date.issued2020-08-01
dc.description.abstractThe fibroblast growth factor (FGF) signaling pathway regulates the intracellular events which are involved in the proper formation of the internal organs and limbs during the earliest stages of embryonic development. Here, the researchers performed a detailed examination of clinical and radiological findings from syndromic cases with sensorineural hearing loss and determined their molecular genetic etiology. Family history, physical examination, laboratory and radiological examinations for three Turkish families displaying congenital sensorineural hearing loss, microtia, dental anomalies and neuromotor developmental delay were evaluated and molecular analysis of the FGF3 gene was performed. The researchers detected a heterozygous deletion of a 2.4 Megabase (Mb) segment in the region spanning 68,734,891 to 71,538,481 bases in the chromosome 11q13.3-q13.4. Interestingly, this region included the FGF3 gene in case 1, whereas two novel mutations (NM_005247: c.8T>G, p.Leu3Arg, NM_005247: c.324+2T>C) were identified in case 2 and case 3 respectively. From this study, the researchers conclude that in the absence of inner ear structures in cases of syndromic hearing loss, FGF3 gene related phenotypes should be considered and the FGF3 gene should be examined by sequence analysis and array-CGH methods for both point mutations and gross deletions.
dc.identifier.citationTÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., ZENGİN G., ARSLAN ATEŞ E., ARMAN A., "FGF3 RELATED PHENOTYPES : A STUDY OF LAMM SYNDROME AND OTODENTAL DYSPLASIA PATIENTS WITH TWO NOVEL MUTATIONS IN FGF3 GENE", International Journal of Human Genetics, cilt.20, sa.4, ss.179-190, 2020
dc.identifier.doi10.31901/24566330.2020/20.04.764
dc.identifier.endpage190
dc.identifier.issn2456-6330
dc.identifier.issue4
dc.identifier.startpage179
dc.identifier.urihttps://www.webofscience.com/wos/woscc/full-record/WOS:000605255900002
dc.identifier.urihttps://hdl.handle.net/11424/287177
dc.identifier.volume20
dc.language.isoeng
dc.relation.ispartofInternational Journal of Human Genetics
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectGENETİK VE KALITIM
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETICS & HEREDITY
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectLife Sciences (LIFE)
dc.subjectFGF3 Gene
dc.subjectMichel's Aplasia
dc.subjectNovel Variant
dc.subjectSensorineural Hearing Loss
dc.subjectSplice-Site Variant
dc.subjectINNER-EAR AGENESIS
dc.subjectGROWTH-FACTOR 3
dc.subjectMICROTIA
dc.subjectDEAFNESS
dc.subjectASSOCIATION
dc.titleFGF3 related phenotypes : A study of lamm syndrome and otodental dysplasia patients with two novel mutations in FGF3 genee
dc.typearticle
dspace.entity.typePublication
local.avesis.id85c0f5b2-8d52-484e-a024-8282eb6d9677
local.indexed.atWOS
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relation.isAuthorOfPublicationaeb6705c-76c3-423f-bf49-bf3e1bb0edf1
relation.isAuthorOfPublication.latestForDiscovery5f812a34-2d87-4040-b76f-0b90c1c695ae

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