File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

TitleMutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Authors
Issue Date1996
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1996, v. 14 n. 3, p. 357-360 How to Cite?
AbstractHoloprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis and 1:16,000 newborn infants, and involves incomplete development and septation of midline structures in the central nervous system (CNS) with a broad spectrum of clinical severity. Alobar HPE, the most severe form which is usually incompatible with postnatal life, involves complete failure of division of the forebrain into right and left hemispheres and is characteristically associated with facial anomalies including cyclopia, a primitive nasal structure (proboscis) and/or midfacial clefting. At the mild end of the spectrum, findings may include microcephaly, mild hypotelorism, single maxillary central incisor and other defects (Fig. 1). This phenotypic variability also occurs between affected members of the same family. The molecular basis underlying HPE is not known, although teratogens, non-random chromosomal anomalies and familial forms with autosomal dominant and recessive inheritance have been described. HPE3 on chromosome 7q36 is one of at least four different loci implicated in HPE. Here, we report the identification of human Sonic Hedgehog (SHH) as HPE3-the first known gene to cause HPE. Analyzing 30 autosomal dominant HPE (ADHPE) families, we found five families that segregate different heterozygous SHH mutations. Two of these mutations predict premature termination of the SHH protein, whereas the others alter highly conserved residues in the vicinity of the alpha-helix-1 motif or signal cleavage site.
Persistent Identifierhttp://hdl.handle.net/10722/44309
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorRoessler, Een_HK
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorGaudenz, Ken_HK
dc.contributor.authorJay, Pen_HK
dc.contributor.authorBerta, Pen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMuenke, Men_HK
dc.date.accessioned2007-09-12T03:51:08Z-
dc.date.available2007-09-12T03:51:08Z-
dc.date.issued1996en_HK
dc.identifier.citationNature Genetics, 1996, v. 14 n. 3, p. 357-360en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44309-
dc.description.abstractHoloprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis and 1:16,000 newborn infants, and involves incomplete development and septation of midline structures in the central nervous system (CNS) with a broad spectrum of clinical severity. Alobar HPE, the most severe form which is usually incompatible with postnatal life, involves complete failure of division of the forebrain into right and left hemispheres and is characteristically associated with facial anomalies including cyclopia, a primitive nasal structure (proboscis) and/or midfacial clefting. At the mild end of the spectrum, findings may include microcephaly, mild hypotelorism, single maxillary central incisor and other defects (Fig. 1). This phenotypic variability also occurs between affected members of the same family. The molecular basis underlying HPE is not known, although teratogens, non-random chromosomal anomalies and familial forms with autosomal dominant and recessive inheritance have been described. HPE3 on chromosome 7q36 is one of at least four different loci implicated in HPE. Here, we report the identification of human Sonic Hedgehog (SHH) as HPE3-the first known gene to cause HPE. Analyzing 30 autosomal dominant HPE (ADHPE) families, we found five families that segregate different heterozygous SHH mutations. Two of these mutations predict premature termination of the SHH protein, whereas the others alter highly conserved residues in the vicinity of the alpha-helix-1 motif or signal cleavage site.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature geneticsen_HK
dc.subject.meshDrosophila proteinsen_HK
dc.subject.meshHoloprosencephaly - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshProteins - geneticsen_HK
dc.subject.meshInfanten_HK
dc.titleMutations in the human Sonic Hedgehog gene cause holoprosencephaly.en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1038/ng1196-357en_HK
dc.identifier.pmid8896572en_HK
dc.identifier.scopuseid_2-s2.0-0030294408en_HK
dc.identifier.volume14en_HK
dc.identifier.issue3en_HK
dc.identifier.spage357en_HK
dc.identifier.epage360en_HK
dc.identifier.isiWOS:A1996VQ14600037-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridRoessler, E=7005526597en_HK
dc.identifier.scopusauthoridBelloni, E=7003332359en_HK
dc.identifier.scopusauthoridGaudenz, K=6602481296en_HK
dc.identifier.scopusauthoridJay, P=7005647518en_HK
dc.identifier.scopusauthoridBerta, P=7005181098en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK
dc.identifier.citeulike5175451-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats