Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome
Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described;...
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| Veröffentlicht in: | Human genome variation 2016-10, Vol.3 (1), p.16034-16034, Article 16034 |
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| container_title | Human genome variation |
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| creator | Takagi, Masaki Miyoshi, Tatsuya Nagashima, Yuka Shibata, Nao Yagi, Hiroko Fukuzawa, Ryuji Hasegawa, Tomonobu |
| description | Heterozygous kinase domain mutations or homozygous extracellular domain mutations in
FGFR1
have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in
FGFR1
have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of
FGFR1
. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of
FGFR1
, thus expanding our understanding of the phenotypic features and further developmental course associated with
FGFR1
mutations. |
| doi_str_mv | 10.1038/hgv.2016.34 |
| format | Article |
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FGFR1
have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in
FGFR1
have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of
FGFR1
. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of
FGFR1
, thus expanding our understanding of the phenotypic features and further developmental course associated with
FGFR1
mutations.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/hgv.2016.34</identifier><identifier>PMID: 27790375</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/1516/1510 ; 631/208/514/1948 ; Biomedical and Life Sciences ; Biomedicine ; Data Report ; Gene Expression ; Gene Function ; Gene Therapy ; Human Genetics ; Molecular Medicine</subject><ispartof>Human genome variation, 2016-10, Vol.3 (1), p.16034-16034, Article 16034</ispartof><rights>The Author(s) 2016</rights><rights>Copyright Nature Publishing Group Oct 2016</rights><rights>Copyright © 2016 The Author(s) 2016 The Author(s)</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3614-2259c578c3fcc04e53241a836999fced0798ad766308dccdd1c09449390296ba3</citedby><cites>FETCH-LOGICAL-c3614-2259c578c3fcc04e53241a836999fced0798ad766308dccdd1c09449390296ba3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061861/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061861/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27923,27924,41119,42188,51575,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27790375$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Takagi, Masaki</creatorcontrib><creatorcontrib>Miyoshi, Tatsuya</creatorcontrib><creatorcontrib>Nagashima, Yuka</creatorcontrib><creatorcontrib>Shibata, Nao</creatorcontrib><creatorcontrib>Yagi, Hiroko</creatorcontrib><creatorcontrib>Fukuzawa, Ryuji</creatorcontrib><creatorcontrib>Hasegawa, Tomonobu</creatorcontrib><title>Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>Heterozygous kinase domain mutations or homozygous extracellular domain mutations in
FGFR1
have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in
FGFR1
have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of
FGFR1
. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of
FGFR1
, thus expanding our understanding of the phenotypic features and further developmental course associated with
FGFR1
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FGFR1
have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in
FGFR1
have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of
FGFR1
. This is the first report of an HS-associated heterozygous mutation located in the extracellular domain of
FGFR1
, thus expanding our understanding of the phenotypic features and further developmental course associated with
FGFR1
mutations.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>27790375</pmid><doi>10.1038/hgv.2016.34</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 631/208/1516/1510 631/208/514/1948 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine |
| title | Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome |
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