Is the novel SCKL3 at 14q23 the predominant Seckel locus?
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by linkage analysis in 13 Turkish families. In total, 18 affected and 10 unaffected sibs were included in the study. Of the 10 informative families, nine with parental consanguinity and one reportedly nonconsanguineous but with two affected sibs, five were indicative of linkage to the novel locus. One of those families also linked to the SCKL1 locus. A consanguineous family with one affected sib was indicative of linkage to SCKL2. The novel gene locus SCKL3 is 1.18 cM and harbors ménage a trois 1, a gene with a role in DNA repair.
Kilinç
Mehmet Okyay
MO
Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
Ninis
Vasiliki Ninidu
VN
Ugur
Sibel Aylin
SA
Tüysüz
Beyhan
B
Seven
Mehmet
M
Balci
Sevim
S
Goodship
Judith
J
Tolun
Aslihan
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D003241:Consanguinity; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D018895:Microsatellite Repeats; D010641:Phenotype; D013577:Syndrome
D005819:Genetic Markers