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Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation.

ABSTRACT: To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -?(3.7) (63.3 %), --(MED) (11.7 %), --(20.5) (10.7 %), ?2(IVS1(-5nt)) (3.9 %), and ?2(polyA-2) (3.5 %). The most frequent genotypes were -?(3.7)/?? (35.8 %), -?(3.7)/-?(3.7)(18.9 %), -(20.5)/?? (11.5 %), and --(MED)/?? (10.4 %), respectively. There were statistically significant differences in hematological findings between -?(3.7)/-?(3.7) and --(MED)/??, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -?(3.7) single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

SUBMITTER: Bozdogan ST

PROVIDER: S-EPMC4375160 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation.

Bozdogan Sevcan Tug ST Yuregir Ozge Ozalp OO Buyukkurt Nurhilal N Aslan Huseyin H Ozdemir Zeynep Canan ZC Gambin Tomasz T

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 20140613 2

To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve diff ...[more]

PMID: 25825562

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Project description:Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The etiology of HPE is complex and multifactorial. To date, at least 12 HPE-associated genes have been identified, including TGIF (transforming growth factor beta-induced factor), located on chromosome 18p11.3. TGIF encodes a transcriptional repressor of retinoid responses involved in TGF-? signaling regulation, including Nodal signaling. TGIF mutations are reported in approximately 1-2% of patients with non-syndromic, non-chromosomal HPE. We combined data from our comprehensive studies of HPE with a literature search for all individuals with HPE and evidence of mutations affecting TGIF in order to establish the genotypic and phenotypic range. We describe 2 groups of patients: 34 with intragenic mutations and 21 with deletions of TGIF. These individuals, which were ascertained from our research group, in collaboration with other centers, and through a literature search, include 38 probands and 17 mutation-positive relatives. The majority of intragenic mutations occur in the TGIF homeodomain. Patients with mutations affecting TGIFrecapitulate the entire phenotypic spectrum observed in non-chromosomal, non-syndromic HPE. We identified a statistically significant difference between the 2 groups with respect to inheritance, as TGIF deletions were more likely to be de novo in comparison to TGIF mutations (?(2) ((2)) = 6.97, p(permutated) = 0.0356). In addition, patients with TGIF deletions were also found to more commonly present with manifestations beyond the craniofacial and neuroanatomical features associated with HPE (p = 0.0030). These findings highlight differences in patients with intragenic mutations versus deletions affecting TGIF, and draw attention to the homeodomain region, which appears to be particularly relevant to HPE. These results may be useful for genetic counseling of affected patients.

Dataset Information

Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation.

Publications

Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation.

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