A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
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 approximately 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.
Børglum
A D
AD
Institute of Human Genetics, University of Aarhus, Denmark. anders@humgen.au.dk
Balslev
T
T
Haagerup
A
A
Birkebaek
N
N
Binderup
H
H
Kruse
T A
TA
Hertz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008126:Lod Score; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D013577:Syndrome
D005819:Genetic Markers