Two craniosynostotic syndrome loci, crouzon and jackson-weiss, map to chromosome 10q23-q26

Xiang Li, Amy Feldman Lewanda, Fabian Eluma, Heather Jerald, Hoon Choi, Ihuoma Alozie, Christos Proukakis, C. Conover Talbot, Craig Vander Kolk, Lynne M. Bird, Marilyn C. Jones, Michael Cunningham, Sterling K. Clarren, Reed E. Pyeritz, Jean Weissenbach, Charles E. Jackson, Ethylin Wang Jabs

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Abstract

Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia. Jackson-Weiss syndrome (MIM 123150) is another autosomal dominant craniosynostosis with highly variable phenotypic expression. Unlike Crouzon syndrome, Jackson-Weiss syndrome is associated with foot anomalies. We performed two point linkage and haplotype analyses using 13 dinucleotide repeat markers on chromosome 10, spanning a genetic distance of 108 cM. The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, Õ = 0.00). The Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186. The D10S209 locus was most strongly linked (Z = 11.29, Õ = 0.00).

Original languageEnglish (US)
Pages (from-to)418-424
Number of pages7
JournalGenomics
Volume22
Issue number2
DOIs
StatePublished - Jul 15 1994

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ASJC Scopus subject areas

  • Genetics

Cite this

Li, X., Lewanda, A. F., Eluma, F., Jerald, H., Choi, H., Alozie, I., Proukakis, C., Talbot, C. C., Kolk, C. V., Bird, L. M., Jones, M. C., Cunningham, M., Clarren, S. K., Pyeritz, R. E., Weissenbach, J., Jackson, C. E., & Jabs, E. W. (1994). Two craniosynostotic syndrome loci, crouzon and jackson-weiss, map to chromosome 10q23-q26. Genomics, 22(2), 418-424. https://doi.org/10.1006/geno.1994.1403