Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).
For a general phenotypic description and a discussion of genetic heterogeneity ... Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).
Borglum et al. (2001) studied a consanguineous family of Iraqi descent with Seckel syndrome. The parents were first cousins and had 4 children who fulfilled the criteria for Seckel syndrome, as well as a younger healthy girl. Borglum ... Borglum et al. (2001) studied a consanguineous family of Iraqi descent with Seckel syndrome. The parents were first cousins and had 4 children who fulfilled the criteria for Seckel syndrome, as well as a younger healthy girl. Borglum et al. (2001) mapped the locus in this family to chromosome 18 and noted a number of distinct differences between this family and individuals in chromosome 3-linked families with Seckel syndrome (SCKL1; 210600). The mental and motor retardation in the chromosome 18-linked family was milder. The growth retardation of the chromosome 18-linked patients was proportionate, whereas in the chromosome 3-linked families, the heads were small relative to other parameters. All affected sibs in the chromosome 18-linked family had 1 or more small cafe au lait spots on the skin, a finding not previously reported in Seckel syndrome. This finding suggested to the authors that the underlying defect in these patients might involve DNA repair.
In a consanguineous Iraqi family with Seckel syndrome mapping to chromosome 18p11.31-q11.2, previously studied by Borglum et al. (2001), Qvist et al. (2011) sequenced the candidate gene RBBP8 and identified homozygosity for a splice site mutation (604124.0001) that ... In a consanguineous Iraqi family with Seckel syndrome mapping to chromosome 18p11.31-q11.2, previously studied by Borglum et al. (2001), Qvist et al. (2011) sequenced the candidate gene RBBP8 and identified homozygosity for a splice site mutation (604124.0001) that segregated with the disease and was not found in 100 controls.