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

doi:10.1006/geno.1994.1403

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 language	English (US)
Pages (from-to)	418-424
Number of pages	7
Journal	Genomics
Volume	22
Issue number	2
DOIs	https://doi.org/10.1006/geno.1994.1403
State	Published - Jul 15 1994
Externally published	Yes

ASJC Scopus subject areas

Genetics

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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

Li, X, Lewanda, AF, Eluma, F, Jerald, H, Choi, H, Alozie, I, Proukakis, C, Talbot, CC, Kolk, CV, Bird, LM, Jones, MC, Cunningham, M, Clarren, SK, Pyeritz, RE, Weissenbach, J, Jackson, CE & Jabs, EW 1994, 'Two craniosynostotic syndrome loci, crouzon and jackson-weiss, map to chromosome 10q23-q26', Genomics, vol. 22, no. 2, pp. 418-424. https://doi.org/10.1006/geno.1994.1403

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title = "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, {\~O} = 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, {\~O} = 0.00).",

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

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doi = "10.1006/geno.1994.1403",

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AU - Li, Xiang

AU - Lewanda, Amy Feldman

AU - Eluma, Fabian

AU - Jerald, Heather

AU - Choi, Hoon

AU - Alozie, Ihuoma

AU - Proukakis, Christos

AU - Talbot, C. Conover

AU - Kolk, Craig Vander

AU - Bird, Lynne M.

AU - Jones, Marilyn C.

AU - Cunningham, Michael

AU - Clarren, Sterling K.

AU - Pyeritz, Reed E.

AU - Weissenbach, Jean

AU - Jackson, Charles E.

AU - Jabs, Ethylin Wang

PY - 1994/7/15

Y1 - 1994/7/15

N2 - 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).

AB - 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).

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

Abstract

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