A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Eur J Hum Genet. 2001 Oct;9(10):753-7. doi: 10.1038/sj.ejhg.5200701.

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 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18 / genetics*
  • Consanguinity
  • Female
  • Genes, Recessive / genetics
  • Genetic Heterogeneity
  • Genetic Markers / genetics
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Lod Score
  • Male
  • Microcephaly / genetics
  • Pedigree
  • Syndrome

Substances

  • Genetic Markers

Associated data

  • OMIM/210600