Abstract
Seckel syndrome (MIM 210600) is a rare autosomal recessive disorder with a heterogeneous appearance. Key features are growth retardation, microcephaly with mental retardation, and a characteristic ‘bird-headed’ facial appearance. We have performed a genome-wide linkage scan in a consanguineous family of Iraqi descent. By homozygosity mapping a new locus for the syndrome was assigned to a ∼30 cM interval between markers D18S78 and D18S866 with a maximum multipoint lod score of 3.1, corresponding to a trans-centromeric region on chromosome 18p11.31-q11.2. This second locus for Seckel syndrome demonstrates genetic heterogeneity and brings us a step further towards molecular genetic delineation of this heterogeneous condition.
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The Danish Medical Research Council is thanked for financial support.
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Børglum, A., Balslev, T., Haagerup, A. et al. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet 9, 753–757 (2001). https://doi.org/10.1038/sj.ejhg.5200701
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DOI: https://doi.org/10.1038/sj.ejhg.5200701
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