ABSTRACT
M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation at the same nucleotide position was M467K, with an allele frequency of 4.2 percent (2/48). The polymorphism which is found in linkage disequilibrium with the M467T is 231T/A (exon 1). We also found that 231T/A was associated with the M467T mutation in our series.
Subject(s)
Amino Acid Transport Systems, Basic , Carrier Proteins/genetics , Cystinuria/genetics , Membrane Glycoproteins/genetics , Child , Child, Preschool , DNA Mutational Analysis , Female , Humans , Infant , Male , Mutation , Polymorphism, Genetic , TurkeyABSTRACT
A one-day-old male infant with cleft lip and palate, microcephaly, hypotelorism, microphthalmia and absence of the nose is presented. The intermaxillar segment and nasal bone structure were not seen on radiological examination of the skull. Chromosome examination showed a 46, XY karyotype. On postmortem examination, the cerebrum was seen to be a single lobe. Olfactory nerves, corpus callosum and nasal formation, besides the septum were absent. The first and second ventricles were formed as a single ventricle. These findings were compatible with alobar holoprosencephaly.
