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Showing 3 results for Tabei
Relation of red blood cell's folate and methylenetetrahedrofolate reductase C677T polymorphism to colorectal adenoma
Zohreh Mazloom , Seyed Mohammad Bagher Tabei, Salmeh Bahmanpour , Hamid Reza Tabatabaee , Mahvash Alizadeh Naeni,
Volume 72, Issue 8 (November 2014)
Abstract
Background: Red Blood Cell's (RBC)’s folate may be related to decreased risk of colorectal adenoma. Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate metabolism. The MTHFR C677T polymorphism is located in the Exon 4 region and is associated with the change of folate level. This study evaluated the associations between RBC’s Folate levels and colorectal adenoma risk, taking into account whether this associations is modified by MTHFR Polymorphism. Methods: In a case-control study conducted from January to October 2007 in Endoscopy-Colonoscopy ward of Shahid Faghihi Hospital, Shiraz. Participants were 177 case of colorectal adenoma who had pathologic-confirmed adenomatous polyps in full colonoscopy examination and 366 controls without polyps in full colonoscopy. Fasting venous blood were drawn from patients in order to determine RBC’s folate and to identify the MTHFR polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: Gender Distribution in the patient group were 57.6% male and 42.3% female and control group consisted of 55.1% male and 43.9% female. 50.2% of cases and 49.2% of controls were in the age group “45 years and above”. The T allele frequency was 56.6% in control group and 34.4% in colorectal adenoma patients. There was a significant association between T allele in -677 position of MTHFR gene and colorectal adenoma susceptibility (OR: 1.85, 95% CI: 0.76-4.24, P<0.001). Mean concentration of RBC’s folate was not statistically significant among three groups with TT genotype (mutation homozygote), CT genotype (heterozygote), and CC genotype (wild-type homozygote) (P>0.05) but mean concentration of RBC’s folate was the lowest in TT genotype compare with two other genotype. Odd's Ratio for low (<140ng/ml) versus high level of RBC’s folate in participants with TT genotype was (OR: 2.08, 95% CI: 0.10-2.19, P<0.05) as compare with the CC ones. Conclusion: The result of this study suggested an inverse association between RBC's folate concentration and colorectal adenomas risk, which may be more relevant for those with the MTHFR TT genotype.
Autosomal recessive polycystic kidney disorder due to two novel compound heterozygote mutations in PKHD1 gene: case report
Mohammad Miryounesi , Majid Fardaei , Seyyed Mohammad Bagher Tabei, Soudeh Ghafouri-Fard ,
Volume 74, Issue 10 (January 2017)
Abstract

Background: Autosomal recessive polycystic kidney disorder (ARPCKD) is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in neonatal and childhood period. PKHD1 gene located on chromosome 6 is linked with this disorder. About half of detected mutations in this gene are missense ones. The largest protein product of this gene is called the FPC/polyductin complex (FPC). It is a single-membrane spanning protein whose absence leads to abnormal ciliogenesis in the kidneys.

Case presentation: Here we present a 5-year-old female patient affected with ARPCKD. She has been born to a non-consanguineous healthy Iranian parents. No similar disorder has been seen in the family. Prenatal history has been normal. In order to find the genetic background, DNA was extracted from patient's peripheral blood lymphocytes. PKHD1 gene exons and exon-intron boundaries were sequenced using next generation sequencing platform. Two novel variants have been detected in compound heterozygote state in the patient (c.6591C>A, c.8222C>A). Bioinformatics tools predicted these variants to be pathogenic.

Conclusion: In the present study, we detected two novel variants in PKHD1 gene in a patient with ARPCKD. The relatively mild phenotype of this patient is in accordance with the missense mutations found. Molecular genetic tools can help in accurate risk assessment as well as precise genotype-phenotype correlation establishment in families affected with such disorder to decrease the birth of affected individuals through preimplantation genetic diagnosis or better management of disorder.

Mental retardation due to chromosomal translocation in an Iranian consanguineous family: report of three cases
Soudeh Ghafouri-Fard , Mehdi Dianatpour , Seyed Mohammad Bagher Tabei, Mohammad Miryounesi ,
Volume 74, Issue 11 (February 2017)
Abstract

Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded children. These abnormalities are caused because chromosomes participated in the reciprocal translocations produce quadrivalents at meiosis. These quadrivalents segregate and lead to several different meiotic outcomes, just two of which are normal or balanced.

Case Presentation: A consanguineous family with three mentally retarded daughters at the ages of 24, 18 and 10 years was referred to Comprehensive Medical Genetics Centre, Shiraz, Iran in 2015. Family history showed a case of unexplained infant death as well as a spontaneous abortion. Three survived siblings had hypotonia and severe developmental delay during infantile period. In addition, they suffer from primary amenorrhea. Two siblings have vesicoureteral reflux (VUR). Cytogenetic analysis of two patients showed 46,XX,t(6;12)(q23;q22),der(9)t(8;9)(q24;p24) with partial monosomy of chromosome 9 and partial trisomy of 8q24 segment, while the other patient had 46,XX,der(12)t(6;12)(q23;q22) with partial monosomy of 12q22qter and partial trisomy of 6q23qter segment. Their mother had two balanced chromosomal translocations (46, XX, t(6,12)(q21;q22), t(8,9)(q24;p24)).

Conclusion: The above presented case is another example for the rare occurrence of double balanced chromosomal translocations in a phenotypically normal person. Although the most important causes of mental retardation in consanguineous marriages are autosomal recessive disorders, the role of chromosomal aberrations in mental retardation in these families must not be neglected. In other words, cytogenetic studies should be performed as a first line test in either situation.

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