Report of second case and clinical and molecular characterization of Eiken syndrome
We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R. Only one affected family has been known to‐date. The hallmarks inc...
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| Veröffentlicht in: | Clinical genetics 2018-11, Vol.94 (5), p.457-460 |
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| creator | Moirangthem, A. Narayanan, D.L. Jacob, P. Nishimura, G. Mortier, G. Girisha, K.M. |
| description | We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R. Only one affected family has been known to‐date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi‐allelic hypomorphic variants in PTH1R are probably to cause this condition. |
| doi_str_mv | 10.1111/cge.13413 |
| format | Article |
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Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R. Only one affected family has been known to‐date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi‐allelic hypomorphic variants in PTH1R are probably to cause this condition.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.13413</identifier><identifier>PMID: 29987841</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Bone dysplasia ; bone remodeling ; Bones ; delayed ossification ; Eiken syndrome ; Epiphysis ; Ossification ; Parathyroid ; Parathyroid hormone ; Phenotypes ; pseudoepiphysis ; PTH1R ; skeletal dysplasia ; Skeleton ; Supernumerary ; Teeth ; tooth eruption failure</subject><ispartof>Clinical genetics, 2018-11, Vol.94 (5), p.457-460</ispartof><rights>2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2018 John Wiley & Sons A/S. 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Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R. Only one affected family has been known to‐date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi‐allelic hypomorphic variants in PTH1R are probably to cause this condition.</description><subject>Bone dysplasia</subject><subject>bone remodeling</subject><subject>Bones</subject><subject>delayed ossification</subject><subject>Eiken syndrome</subject><subject>Epiphysis</subject><subject>Ossification</subject><subject>Parathyroid</subject><subject>Parathyroid hormone</subject><subject>Phenotypes</subject><subject>pseudoepiphysis</subject><subject>PTH1R</subject><subject>skeletal dysplasia</subject><subject>Skeleton</subject><subject>Supernumerary</subject><subject>Teeth</subject><subject>tooth eruption failure</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp1kN9LwzAQx4Mobk4f_Aek4Is-dEuaNGseZcwpDAR_PIc0vWpm28ykReZfb7ZOHwTv5e7gc1-OD0LnBI9JqIl-hTGhjNADNCRUiBhjzA7RMDQRC8LpAJ14vwornabiGA0SIbJpxsgQPT3C2ro2smXkQdumiLTyEKntUJnGaFXtltpWoLtKuUi_Kad0C858qdbYZns6N-_QRH7TFM7WcIqOSlV5ONv3EXq5nT_P7uLlw-J-drOMNUsZjQUlU1JgzYTCSuWY44KLjJcliJwUPBE5gMgUL6nmBaRKp6xQmLOEJpgmlNIRuupz185-dOBbWRuvoapUA7bzMsF8mmVpgrOAXv5BV7ZzTfhOJoTwoCJjaaCue0o7672DUq6dqZXbSILl1rQMpuXOdGAv9oldXkPxS_6oDcCkBz5NBZv_k-RsMe8jvwEfSIZZ</recordid><startdate>201811</startdate><enddate>201811</enddate><creator>Moirangthem, A.</creator><creator>Narayanan, D.L.</creator><creator>Jacob, P.</creator><creator>Nishimura, G.</creator><creator>Mortier, G.</creator><creator>Girisha, K.M.</creator><general>Blackwell Publishing Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-0139-8239</orcidid></search><sort><creationdate>201811</creationdate><title>Report of second case and clinical and molecular characterization of Eiken syndrome</title><author>Moirangthem, A. ; Narayanan, D.L. ; Jacob, P. ; Nishimura, G. ; Mortier, G. ; Girisha, K.M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4543-93171d0c49a0aab060d6986ffe9b1d629bee98a6f3c6de5ac54da064232032333</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Bone dysplasia</topic><topic>bone remodeling</topic><topic>Bones</topic><topic>delayed ossification</topic><topic>Eiken syndrome</topic><topic>Epiphysis</topic><topic>Ossification</topic><topic>Parathyroid</topic><topic>Parathyroid hormone</topic><topic>Phenotypes</topic><topic>pseudoepiphysis</topic><topic>PTH1R</topic><topic>skeletal dysplasia</topic><topic>Skeleton</topic><topic>Supernumerary</topic><topic>Teeth</topic><topic>tooth eruption failure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Moirangthem, A.</creatorcontrib><creatorcontrib>Narayanan, D.L.</creatorcontrib><creatorcontrib>Jacob, P.</creatorcontrib><creatorcontrib>Nishimura, G.</creatorcontrib><creatorcontrib>Mortier, G.</creatorcontrib><creatorcontrib>Girisha, K.M.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Moirangthem, A.</au><au>Narayanan, D.L.</au><au>Jacob, P.</au><au>Nishimura, G.</au><au>Mortier, G.</au><au>Girisha, K.M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Report of second case and clinical and molecular characterization of Eiken syndrome</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2018-11</date><risdate>2018</risdate><volume>94</volume><issue>5</issue><spage>457</spage><epage>460</epage><pages>457-460</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R. Only one affected family has been known to‐date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi‐allelic hypomorphic variants in PTH1R are probably to cause this condition.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>29987841</pmid><doi>10.1111/cge.13413</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-0139-8239</orcidid><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Bone dysplasia bone remodeling Bones delayed ossification Eiken syndrome Epiphysis Ossification Parathyroid Parathyroid hormone Phenotypes pseudoepiphysis PTH1R skeletal dysplasia Skeleton Supernumerary Teeth tooth eruption failure |
| title | Report of second case and clinical and molecular characterization of Eiken syndrome |
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