Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

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dc.contributor.authorKelberman, D.
dc.contributor.authorTyson, J.
dc.contributor.authorChandler, D.
dc.contributor.authorMcInerney, A.
dc.contributor.authorSlee, J.
dc.contributor.authorAlbert, D.
dc.contributor.authorAymat, A.
dc.contributor.authorBotma, M.
dc.contributor.authorCalvert, M.
dc.contributor.authorGoldblatt, J.
dc.contributor.authorHaan, E.
dc.contributor.authorLaing, N.
dc.contributor.authorLim, J.
dc.contributor.authorMalcolm, S.
dc.contributor.authorSinger, S.
dc.contributor.authorWinter, R.
dc.contributor.authorBitner-Glindzicz, M.
dc.date.issued2001
dc.description© Springer-Verlag 2001
dc.description.abstractHemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.
dc.description.statementofresponsibilityD. Kelberman, J. Tyson, D. C. Chandler, A. M. McInerney, J. Slee, D. Albert, A. Aymat, M. Botma, M. Calvert, J. Goldblatt, E. A. Haan, N. G. Laing, J. Lim, S. Malcolm, S. L. Singer, R. M. Winter, M. Bitner-Glindzicz
dc.identifier.citationHuman Genetics, 2001; 109(6):638-645
dc.identifier.doi10.1007/s00439-001-0626-x
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/7330
dc.language.isoen
dc.publisherSpringer-Verlag
dc.source.urihttps://doi.org/10.1007/s00439-001-0626-x
dc.subjectFacial Bones
dc.subjectChromosomes, Human, Pair 14
dc.subjectHumans
dc.subjectMalocclusion
dc.subjectAbnormalities, Multiple
dc.subjectFacial Asymmetry
dc.subjectSyndrome
dc.subjectGenetic Markers
dc.subjectPedigree
dc.subjectLod Score
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Testing
dc.titleHemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome
dc.typeJournal article
pubs.publication-statusPublished

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