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a Department of
Biochemistry, College of Medicine, Sultan Qaboos University, Muscat,
Sultanate of Oman, b Gene Mapping
Centre, Max-Delbrück-Centrum, D-13092 Berlin, Germany, c Institute of Human Genetics, Charité, Humboldt
University, D-13353 Berlin, Germany, d Departments
of Biochemistry and Paediatrics, Faculty of Medicine and Health
Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United
Arab Emirates
Correspondence to: Dr Al-Gazali, algazali{at}hotmail.com
Revised version received 28 February 2001;
Accepted for publication 1 March
2001
BACKGROUND
We have previously
described an autosomal recessive syndrome of macrocephaly, multiple
epiphyseal dysplasia (MED), and distinctive facies in a large, extended
Omani family. The MED observed seems to be part of a larger
malformation syndrome, since both craniofacial and central nervous
system changes were present in the family. We performed a whole genome
scan in this family in order to identify the gene locus for this
malformation syndrome.
METHODS AND RESULTSUsing
homozygosity mapping, we show linkage to the telomeric region of the
long arm of chromosome 15. The position of both the disease gene and
the principal glycoprotein, chondroitin sulphate proteoglycan
(aggrecan, AGC1) on chromosome 15q26,
suggested that the aggrecan gene is a candidate for the disease in this
family. However, three of the four affected children were heterozygous for a polymorphism at position 831 of the coding sequence of
AGC1, providing strong evidence against its involvement.
CONCLUSIONWe have identified a
gene locus for a recessive syndrome of macrocephaly, MED, and
distinctive facies in a large Omani family. Aggrecan located on
chromosome 15q26, within the critical region determined for this
syndrome in this family, was excluded as a candidate gene.
This article has been cited by other articles:
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  S Eyre, P Roby, K Wolstencroft, K Spreckley, R Aspinwall, R Bayoumi, L Al-Gazali, R Ramesar, P Beighton, and G Wallis Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene J. Med. Genet., September 1, 2002; 39(9): 634 - 638. [Abstract] [Full Text] [PDF]
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