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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
Human Genetics, Volume 113, No. 1, Year 2003
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Description
We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including wide open calvarial sutures with large and late-closing anterior fontanels, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, significant hypertelorism, and a broad and prominent nose. In addition, these individuals have Y-shaped sutural cataracts diagnosed by 1-2 years of age. No chromosomal or biochemical abnormalities were identified. A genome-wide scan was performed, and two-point LOD score analysis, assuming autosomal recessive inheritance, detected linkage to chromosome 14ql3-q21. The highest LOD scores were obtained for marker GATA136A04 (LOD=4.58 at θ=0.00) and for the adjacent telomeric marker D14S1048 (LOD=4.32 at θ=0.00). Multipoint linkage analysis resulted in a maximum LOD score of 5.44 between markers D14S1048 and GATA136A04. Model independent analysis by SIBPAL confirmed linkage to the same chromosomal region. Haplotype analysis indicated that all affected individuals were homozygous for the interval on chromosome 14ql3-q21 with two recombinants for D14S1014 (centromeric) and one recombinant for D14S301 (telomeric). These recombinations limit the disease locus to a region of approximately 7.26 Mb. Candidate genes localized to this region were identified, and analysis of PAX9 did not identify mutations in these patients. The unique clinical phenotype and the mapping data suggest that this family represents a novel autosomal recessive syndrome. © Springer-Verlag 2003.
Authors & Co-Authors
Boyadjiev, Simeon A.
United States, Baltimore
Johns Hopkins Medicine
United States, Baltimore
The Johns Hopkins Hospital
Justice, Cristina M.
United States, Bethesda
National Human Genome Research Institute Nhgri
Eyaid, Wafaa M.
Saudi Arabia, Riyadh
King Fahad Medical City
McKusick, Victor A.
United States, Baltimore
Johns Hopkins Medicine
Lachman, Ralph S.
United States, Los Angeles
University of California, Los Angeles
Chowdry, Arnab B.
United States, Baltimore
Johns Hopkins Medicine
Jabak, Monzer H.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Zwaan, Johan T.
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
United States, San Antonio
The University of Texas at San Antonio
Wilson, Alexander F.
United States, Bethesda
National Human Genome Research Institute Nhgri
Jabs, Ethylin Wang
United States, Baltimore
Johns Hopkins Medicine
Statistics
Citations: 36
Authors: 10
Affiliations: 7
Identifiers
Doi:
10.1007/s00439-003-0932-6
ISSN:
03406717
Research Areas
Genetics And Genomics
Participants Gender
Female