The gene for Crouzon craniofacial dysostosis maps to a 7 centiMorgan region on chromosome 10q in three unrelated kindreds

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134005

Ehrlich, G D; Preston, R A; Aston, C A ^[1]

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1. Univ. of Pittsburgh, PA (United States); and others

Crouzon craniofacial dysostosis (CFD, M.I.M. number 123500) is an autosomal dominant disorder of craniofacial development with complete penetrance and variable expressivity that is characterized by premature craniosynostosis, maxilary hypoplasia, and shallow orbits. We recently mapped CFD to a 21 centiMorgan (cM) region of chromosome 10q25-q26 in two unrelated families from North America. We now report the confirmation of this locus using a third large CFD kindred from South America and describe a refinement of the CFD gene map position. A recombination was observed in two members of the Argentinean kindred at marker D10S209, thereby redefining the centromeric limit of the CFD locus. In addition, a newly available Genethon microsatellite marker, D10S587, which maps between D10S216 and D10S209, proved to be informative for the original family and a recombination was observed at this marker in an unaffected family member, redefining the telomeric limit of the Crouzon syndrome locus. The finding of these obligate recombinants reduces the candidate region for the CFD gene locus to 7 cM. Multipoint linkage analysis (LINKAGE (ver 5.1)) carried out on the three pedigrees produced a maximal LOD score of 12.33 at a locus approximately 2 cM telomeric to D10S209. These findings suggest that CFD is a genetically homogeneous disorder caused by mutations in a gene located on chromosome 10q.

• OSTI ID: 134005
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CENTROMERES
CONGENITAL MALFORMATIONS
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
L CODES
PATIENTS
SKELETAL DISEASES
STATISTICS
TELOMERES