Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia. We have performed a genomic screen in two consanguineous families of Pakistani origin and found that the disorder segregates with markers between loci D3S1316 and D3S3710, which map to chromosome 3q22.1-q24. Analysis using HOMOZ/MAPMAKER gave a maximum LOD score of 8.72. All five affected individuals were homozygous for the same allele, for two adjacent polymorphic markers within the region segregating with the disease, narrowing the region to 12 cM.
Goodship
J
J
Human Genetics Unit, School of Biochemistry and Genetics, Newcastle University, Newcastle-upon-Tyne, United Kingdom. j.a.goodship@ncl.ac.uk
Gill
H
H
Carter
J
J
Jackson
A
A
Splitt
M
M
Wright
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree; D013577:Syndrome