Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and pa...

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Autores principales:	Aysel Kalayci Yigin, Mehmet Bugrahan Duz, Mehmet Seven
Formato:	article
Lenguaje:	EN
Publicado:	Georg Thieme Verlag KG 2021
Materias:	cleidocranial dysplasia runx mutation sanger sequencing rare findings Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/b7cd01c46e9a473bbc850a9d9ddaa0da
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spelling	oai:doaj.org-article:b7cd01c46e9a473bbc850a9d9ddaa0da2021-11-10T00:18:06ZRare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation2699-940410.1055/s-0041-1736482https://doaj.org/article/b7cd01c46e9a473bbc850a9d9ddaa0da2021-10-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736482https://doaj.org/toc/2699-9404Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and parietal bossing, hypertelorism, brachycephaly, short stature, supernumerary, and late erupting teeth. Radiographic studies can reveal involvement of multiple bones including skull, chest, pelvis, and limbs. CCD can be diagnosed with clinical and radiological evaluation and validated by molecular studies. Heterozygous loss of function RUNX2 gene, which plays an important role in osteogenesis and differentiation of precursor cells, causes CCD phenotype. Methods We report five cases from three unrelated families with CCD phenotype. All exons and exonic–intronic boundary regions of RUNX2 gene from five patients were analyzed by polymerase chain reaction amplification and direct Sanger-sequencing. Results Our patients had classical CCD phenotype and we detected three different previously described mutations including c.1171C > T, IVS4 + 4delAAGT and c.676G > A. However, nail dysplasia has never been associated with these mutations. Our patients had varying degrees of nail dysplasia. Two of three mutations are related with Runt DNA-binding domain of RUNX2 protein in Wnt signaling and c.1171C > T had effect on proline/serine/threonine-rich (PST) domain. Recently, Wnt signaling pathway was presented as a key regulator of digit and nail differentiation. Our data suggest that RUNX2 gene may have an essential role on embryogenesis of nails, probably by protecting their integrity.Aysel Kalayci YiginMehmet Bugrahan DuzMehmet SevenGeorg Thieme Verlag KGarticlecleidocranial dysplasiarunx mutationsanger sequencingrare findingsGeneticsQH426-470Neoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENGlobal Medical Genetics (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cleidocranial dysplasia runx mutation sanger sequencing rare findings Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	cleidocranial dysplasia runx mutation sanger sequencing rare findings Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Aysel Kalayci Yigin Mehmet Bugrahan Duz Mehmet Seven Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
description	Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were accompanied by mobile and drooping shoulders, frontal and parietal bossing, hypertelorism, brachycephaly, short stature, supernumerary, and late erupting teeth. Radiographic studies can reveal involvement of multiple bones including skull, chest, pelvis, and limbs. CCD can be diagnosed with clinical and radiological evaluation and validated by molecular studies. Heterozygous loss of function RUNX2 gene, which plays an important role in osteogenesis and differentiation of precursor cells, causes CCD phenotype. Methods We report five cases from three unrelated families with CCD phenotype. All exons and exonic–intronic boundary regions of RUNX2 gene from five patients were analyzed by polymerase chain reaction amplification and direct Sanger-sequencing. Results Our patients had classical CCD phenotype and we detected three different previously described mutations including c.1171C > T, IVS4 + 4delAAGT and c.676G > A. However, nail dysplasia has never been associated with these mutations. Our patients had varying degrees of nail dysplasia. Two of three mutations are related with Runt DNA-binding domain of RUNX2 protein in Wnt signaling and c.1171C > T had effect on proline/serine/threonine-rich (PST) domain. Recently, Wnt signaling pathway was presented as a key regulator of digit and nail differentiation. Our data suggest that RUNX2 gene may have an essential role on embryogenesis of nails, probably by protecting their integrity.
format	article
author	Aysel Kalayci Yigin Mehmet Bugrahan Duz Mehmet Seven
author_facet	Aysel Kalayci Yigin Mehmet Bugrahan Duz Mehmet Seven
author_sort	Aysel Kalayci Yigin
title	Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
title_short	Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
title_full	Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
title_fullStr	Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
title_full_unstemmed	Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
title_sort	rare findings in cleidocranial dysplasia caused by runx mutation
publisher	Georg Thieme Verlag KG
publishDate	2021
url	https://doaj.org/article/b7cd01c46e9a473bbc850a9d9ddaa0da
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Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation

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