657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family.
We report on a consanguineous Turkish family whose first son died of anal atresia and whose second son presented with severe pre- and post-natal growth retardation as well as striking microcephaly, immunodeficiency, congenital heart disease, chromosomal instability and rhabdomyosarcoma in the anal region. The proband was found to carry the homozygous 657del5 mutation in the NBS1 gene, which is responsible for Nijmegen breakage syndrome (NBS) in most of the Slav populations. Our family, the first diagnosed with NBS in the Turkish population, represents one of the most severely affected examples of the syndrome, with profound pre- and post-natal growth retardation associated with structural abnormalities, and expands the clinical spectrum of this rare disorder.
Tekin
Mustafa
M
Division of Pediatric Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi 06100, Ankara, Turkey. mtekin@medicine.ankara.edu.tr
Doğu
F
F
Taçyíldiz
N
N
Akar
E
E
Ikincioğullari
A
A
Oğur
G
G
Yavuz
G
G
Babacan
E
E
Akar
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics*; D002675:Child, Preschool; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D017384:Sequence Deletion; D014421:Turkey
D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins