Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.

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, theta = 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, theta = 0.00).

• Authors: X Li, A F Lewanda, F Eluma, H Jerald, H Choi, I Alozie, C Proukakis, C C Talbot Jr, C Vander Kolk, L M Bird
• Journal: Genomics (Genomics) Vol. 22 Issue 2 Pg. 418-24 (Jul 15 1994) ISSN: 0888-7543 [Print] United States
• PMID: 7806229 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Genetic Markers

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Mapping
• Chromosomes, Human, Pair 10
• Craniofacial Dysostosis (genetics)
• Craniosynostoses (genetics)
• Ethnicity (genetics)
• Female
• Foot Deformities, Congenital (genetics)
• Genetic Markers
• Haplotypes (genetics)
• Humans
• Lod Score
• Male
• Pedigree
• Phenotype
• Syndrome