BackgroundLymphocyte enhancer factor-1 (LEF-1) is a member of the LEF-1/TCF family of transcription factors that are critically involved in canonical Wnt/β-catenin Signaling to regulate B Lymphocyte proliferation and survival. Alteration of LEF1 expression and function leads to leukemogenesis as well as other several neoplasms.Aimsto identify mutations in exons two and three of the LEF1 among B-CLL Sudanese patients. Also, to functionally analyze the detected SNPs using different in silico tools.Materials and methodsImmuno-phenotype for the detection of B cells CD5 and CD19 markers was performed on 128 B-CLL Sudanese patients by using a flow cytometry technique. DNA extraction, conventional PCR, and Sanger sequencing were applied to the LEF1 gene. Also, we performed a mutational analysis for identified SNPs using bioinformatics tools.ResultsA positive CD5 & CD19 expression was found in B-CLL patients. No mutation was observed in exon two. While four mutations were observed in exon three; two of them were not reported in previous studies. Interestingly, splicing analysis predicted that these mutations could lead to splicing defects in LEF1 pre-mRNA due to their potential effects on splicing regulatory elements (i.e. ESE).Conclusionthe two mutations Pro134Pro and Ile135Asn (novel mutation) were detected in all enrolled CLL patients and they could be used as diagnostic and/or prognostic markers for CLL. Therefore, further in vitro and in vivo functional studies with a large sample size are required to verify the splicing effect of the detected mutations in LEF1 pre-mRNA.
ÖZETTurner sendromu X kromozomunun birinin kaybı veya yapısal anomalisi ile karakterize kromozomal bir bozukluktur. Vakaların önemli bir bölümü abortus ile sonuçlanmaktadır. Klinik bulguları yenidoğan döneminde her zaman görülmeyebilir. Bu nedenle sonraki yaşlarda tanı alabilirler. Turner sendromu el ayak sırtında lenf ödem, düşük ense saç çizgisi, kısa yele boyun gösteren hastalarda düşünülmelidir. Bu sendroma kardiyovasküler, genitoüriner ve endokrin sistem anomalileri sıklıkla eşlik edebilmektedir. Bu olgu sunumunda bilateral renal agenezi, pulmoner hipoplazi ve aort stenozunun eşlik ettiği antenatal tanılı bir Turner sendromu olgusu sunulmuştur.
ABSTRACTTurner syndrome is a genetic disorder caused by loss or structural disorders of X chromosome. A significant number of cases result with abortion. Clinical symptoms are not always apparent in the newborn period. Therefore it could be diagnosed in later years of life. Turner syndrome should be considered in patients with lymphedema on hands and feets, low hairline, short and webbed neck. Cardiovascular, genitourinary, endocrine system disorders could be accompanied. Here we present an antenatally diagnosed Turner syndrome with bilateral renal agenesis, pulmonary hypoplasia and aortic stenosis.
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