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dc.contributor.authorEkmekci, Cumhur Gokhan
dc.contributor.authorALANAY, Yasemin
dc.contributor.authorKARAARSLAN, Ercan
dc.contributor.authorGunoz, Hulya
dc.contributor.authorBengur, Fuat Baris
dc.date.accessioned2021-03-05T09:44:02Z
dc.date.available2021-03-05T09:44:02Z
dc.date.issued2020
dc.identifier.citationBengur F. B. , Ekmekci C. G. , KARAARSLAN E., Gunoz H., ALANAY Y., "p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype", EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.63, 2020
dc.identifier.issn1769-7212
dc.identifier.otherav_9f54ae04-cda5-4cd9-b9ea-3c1dba440fe8
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/106957
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2019.04.016
dc.description.abstractAchondroplasia (ACH) and hypochondroplasia (HCH) are genetic bone disorders known to be caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Both conditions share radiographic and phenotypical features. HCH is a milder form of ACH. Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region. Other rare mutations have been reported, however no additional hot-spot has been identified. We report an 8-month-old infant, with the heterozygous mutation, c.1043C > G, leading to an amino acid change from serine at 348 to cysteine (p.Ser348Cys). Clinical diagnosis of the patient is intertwined with "mild ACH" or "severe HCH". He did not demonstrate acanthosis nigricans (AN). This mutation has been reported in two different patients and it is located in the Ig-III domain of the FGFR3 region near other mutations associated with ACH. Among the two the 8-year old one also demonstrated AN without evindece of hyperinsulinem. This report emphasizes the benefit of whole gene sequencing for FGFR3 in individuals with suspected "mild ACH/severe HCH". This child will be monitored for future occurrence of AN.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titlep.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype
dc.typeMakale
dc.relation.journalEUROPEAN JOURNAL OF MEDICAL GENETICS
dc.contributor.departmentAcıbadem Mehmet Ali Aydınlar Üniversitesi , ,
dc.identifier.volume63
dc.identifier.issue2
dc.contributor.firstauthorID2277560


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