[Study of factor V Leiden polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the Factor V Leiden polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes. The prevalences of mutant Factor V Leiden [1.2%] in our cohort was below previously published figures on the population of Tehran [2.7%]. Here we describe the distribution of mutant allele FV Leiden in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the most comprehensive study to date with respect to thrombophilic gene polymorphism in Iran

[Study of ACE Ins/Del polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study, in order to assess the distribution of the ACE Ins/Del polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a test strip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequencies of mutant ACE D/I polymorphism [0.62] was remarkably high. Mutant ACE D/I polymorphism in Iran occurred as high as East Mediterranean populations, and exceeded the lower frequencies known from Europe, India and most of Asia. Here we describe the distribution of mutant allele ACE D/I polymorphism in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to ACE D/I gene polymorphism in Iran

[Study of beta-fibrinogen-455 G/A polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the beta-Fibrinogen-455 G/A polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequency of mutant FGB-455 G/A [0.22] is comparable to that of Europeans, but exceeded the much lower frequencies known from the most of Asia. Here we describe the distribution of mutant allele FGB-455 G/A in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran

[Study of MTHFR A1298C polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the MTHFR A1298C polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes for each mutation. The prevalence of mutant MTHFR A1298C in our study population [0.42], was remarkably high. Mutant MTHFR A1298C in Iran occurred less frequently than among Europeans, but exceeded the much lower frequencies known from India and most of Asia. Here we describe the distribution of mutant allele MTHFR A1298C in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran

[Study of Prothrombin G20210A polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the Prothrombin G20210A polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a teststrip presenting a parallel array of allele-specific oligonucleotide probes for each mutation. The allele frequencies of mutant Prothrombin G20210A [0.005] in our cohort were below previously published figures on the population of Tehran [1.5]. Here we describe the distribution of mutant allele Prothrombin G20210A in different ethnicities of Iranian population and compare the results to previously reported data. Our data represent the most comprehensive study to date with respect to thrombophilic gene polymorphism in Iran

[Study of PAI-1 4G/5G polymorphism as a genetic risk factor for cardiovascular disease in the Iranian population]

Two hundred and eight asymptomatic individuals from different origins of Iran were included in this study in order to assess the distribution of the PAI-1 4G/5G polymorphism responding for cardiovascular disease [CVD] in the general Iranian population using a novel technique reverse hybridization Strip Assay for the rapid and simultaneous detection. The test is based on multiplex PCR and hybridization to a test strip presenting a parallel array of allele-specific oligonucleotide probes. The allele frequency of mutant PAI-1 4G/5G [0.45] is comparable to that of Europeans, but exceeded the much lower frequencies known from the most of Asia. Here we describe the distribution of mutant allele PAI-1 4G/5G in different ethnicities of Iranian population. Our data represent the only comprehensive study to date with respect to thrombophilic gene polymorphism in Iran

[Berardinelli-seip congenital lipodystrophy: report of a case and review of literature]

Berardinelli-Seip congenital lipodystrophy [BSCL] is a rare genetic disorder which is usually diagnosed at birth or soon thereafter, with lipoatrophy affecting the face, trunk and the limbs. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscles and liver. Affecting individuals develop insulin resistance and about 35% of individuals develop diabetes mellitus. Hepatomegaly secondary to hepatic steatosis occurs in virtually all individuals. Hypertrophic cardiomyopathy is reported in 20-25% of affected individuals and is a significant cause of mortality. We are reporting a 2.5 year old girl with mild mental retardation, tall stature, hirsutism, lipodystrophy, and hepatomegaly. We believe that our patient suffer from Berardinelli-Seip congenital lipodystrophy

[Townes-brocks syndrome: report of a first case]

Townes-Brocks syndrome [TBS] is characterized by imperforated anus [82%], dysplastic ears [88%] [over-folded superior helices and preauricular tags] and frequently associated with sensorineural and/or conductive hearing impairment [65%], and thumb malformations [89%] [triphalangeal thumbs, duplication of the thumb, preaxial polydactyly and rarely hypoplasia of the thumb]. Renal impairment [27%], including end-stage renal disease [ESRD] [42%], may occur with or without structural abnormalities [mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux]. Congenital heart disease occurs in 25%, genitourinary malformations [36%]. Mental retardation occurs in approximately 10% of cases. It is autosomal dominant disease with variability in the severity of expression. We are reporting a 8-year-old girl with dysplastic ears, deafness, dysplastic thumbs, small kidneys, history of repaired imperforated anus, and rectovaginal fistula. She is also diagnosed with congenital adrenal hyperplasia. We believe our patient is the first case of Townes-Brocks syndrome with congenital adrenal hyperplasia

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy

<p><b>INTRODUCTION</b>Spinal muscular atrophy (SMA) is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neurons in the spinal cord. The survival motor neuron (SMN) protein is encoded by 2 genes, SMN1 and SMN2. The most frequent mutation is the biallelic deletion of exon 7 of the SMN1 gene. In SMA, SMN2 cannot compensate for the loss of SMN1, due to the exclusion of exon 7. The aim of our study was to estimate the frequency of the common SMN1 exon 7 deletion in patients referred to our centre for carrier detection and prenatal diagnosis.</p><p><b>MATERIALS AND METHODS</b>We performed the detection of exon 7 deletion of the SMN1 gene for the affected patients and fetuses suspected to have SMA.</p><p><b>RESULTS</b>Of 243 families, 195 were classified as SMA type I, 30 as type II, and 18 as type III according to their family histories. The analysis of exon 7 deletion among living affected children showed that 94% of the patients with SMA type I, 95% with type II families and 100% with type III had homozygous deletions. Of the prenatal diagnoses, 21 (22.8%) of the 92 fetuses were found to be affected and these pregnancies were terminated.</p><p><b>CONCLUSIONS</b>The homozygosity frequency for the deletion of SMN1 exon 7 for all 3 types was (94%), similar to those of Western Europe, China, Japan and Kuwait.</p>

[Cardiofaciocutaneous syndrome: case report and review of literature]

Cardiofaciocutaneous [CFC] syndrome is a rare genetic disorder. It characterized by a distinctive facial appearance, cardiac and cutaneous abnormalities and mental retardation. The heart defects include pulmonic stenosis, septal defect, hypertrophic cardiomyopathy and rhythm disturbances. Ectodermal abnormalities include sparse, friable and curly hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. We are reporting a 5-year-old boy with mental retardation, bitemporal narrowing, down slanting palpebral fissure, depressed nasal bridge, coarse face, sparse and brittle hair, high frontal hairline, hypohidrotic and dry skin, atopic dermatitis. We believe that our patient is a case of cardiofaciocutaneous syndrome

[Seckel syndrome report of a case and review of literature]

Seckel syndrome is a rare autosomal recessive disorder with a typical "bird-headed" appearance. It characterized by proportionate dwarfism, mental retardation, microcephaly, and growth retardation. In this article we introduce a 7-year-old girl with short stature, microcephaly and mental retardation. She had a characteristic face with receding forehead, prominent nose, micrognathia, low set ears, down slanting palpebral fissure.We believed, she suffers from Seckel Syndrome or bird-headed dwarfism syndrome

[Ellis-van creveld syndrome, with bilateral sensory-neural hearing loss: report of a case and literature review]

Ellis-van Creveld syndrome is a constellation of chondral, ectodermal and cardiac defects. It is a rare autosomal recessive syndrome with variable expression. This syndrome is also known as chondroectodermal dysplasia and mesoectodermal dysplasia. The main features are short stature, short ribs, polydactyly, dysplastic fingernails and teeth, accompanied by heart defects. We are reporting a 2-year-old girl referred to our genetics center with dwarfism, mesomelic short limbs, narrow thorax, funnel chest, short ribs, oligodontia, oral frenula, postaxial polydactyly of fingers and deafness. Her clinical findings are compatible with Ellis-van Creveld syndrome

[Elucidation of alpha-thalassemia mutations in Khuzestan, Iran]

Thalassemia is one of the most common hemoglobin disorders, in which alpha-thalassemia appears in affected individuals with hypochromic microcytic anemia. Because of the absence of the mutation detection capabilities in the most health care centers in Iran, the most patients with alpha-thalassemia misdiagnosed as beta silent carriers. Until now, no inclusive research has been done to expose the patterns of it in Khuzestan. Therefore, in the present study we decided to clarify the prevalence of the mutations in alpha -Thalassemia in Khuzestan. One hundred and fourteen patients from Khuzestan were selected among the patients, referred to Kariminejad and Najmabadi Pathology and Genetics Center, between 1998-2006, showing the signs of hypochromic microcytic anemia and normal HbA2 levels. First of all, they were all tested for 3 common alpha -thalassemia mutations,-3.7, -4.2, --MED, by gap-PCR amplification method. Alpha-Globin Strip Assay of the nine mutation panel and DNA sequencing was used to determine other major contributes in Khuzestan. We could detect alpha -thalassemia mutations for 84.2% of tested individuals. 79.2% had cis-type alpha -thalassemia, 13.5% trans-type and 7.3% was a carrier for two cis-type mutations. In total, 72.9% were silent carrier, 19.8% alpha -thalassemia trait, and 7.3% had alpha -thalassemia major. As an early report 27.4% of the tested alleles were found to be mutated. The - alpha[3.7] single gene deletion was the most frequent alpha -globin mutation in our population representing 55.2% of alpha -thalassemia mutations in Khuzestan. Twelve other mutations [--MED, alpha[PA2[GAA]], - alpha[4.2], alpha[cd19], alpha[-5nt], alpha[cd14], alpha[PA1[AAG]], alpha[CS], anti 3.7 triplication, alpha[St], alpha[cd21], alpha[cd59]. We strongly recommend screening for the identified ten common mutations to improve the molecular diagnosis of anemia

[Dyggve-Melchior-Clausen disease case report and review of literatures]

Dyggve-Melchior-Clausen [DMC] disease is a rare autosomal recessive spondyloepimetaphyseal dysplasia. The main features are short trunk dwarfism, short limbs, and mental retardation. Radiographs show characteristic abnormalities of the spine, epiphyses and metaphyses. Mutation in DMC gene has been found. A 15 year old boy referred to our genetic center with short trunk dwarfism, short limbs, characteristic radiographic findings and mental retardation. His parents are first cousin. He has three affected uncle with same features. We believe our patient is a new xase of Dyggve-Melchrior-Clausen disease

[Survival motor neuron gene deletions among Iranian patients with spinal muscular atrophy]

Spinal muscular atrophy [SMA] is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neuron in the spinal cord. SMN is encoded by two genes, SMN1 and SMN2, which essentially differ by a single nucleotide in exon 7. The most frequent mutation is biallelic deletion of exon 7 of the SMN1 gene. A small percentage of SMA patients present compound heterozygosity with a point mutation on one allele and deletion on the other. In the remaining cases, the disease is unlikely to be related to SMN1 defects. In spinal muscular atrophy [SMA], SMN2 is not able to compensate for the loss of SMN1 due to exclusion of exon 7. The aim of our study was to estimate the frequency of the common exon 7 SMN1 deletion in the families who referred to our center for carrier detection and prenatal diagnosis. Between March 1999 and March 2006, one hundred sixty seven families with history of at least one affected member were referred to us. We performed detection of deletion exon 7 SMN1 for the patients and carrier detection for their parents, prenatal diagnosis in subsequent pregnancies to couples who previously had an affected child became possible [63 prenatal diagnosis]. From 167 families, 139 categorized in type I of the disease, 21 in type II, and 7 in type III. Carrier detection for the parents indicated that in 96 families with history of affected member with type I SMA both parents carried the deletion in exon 7 and in 20 families, one of the parents was carrier. These rates were 16 to 1 for SMA type II, and 3 to 2 for type III SMA. Sixty-four children affected with SMA were studied, 58 of them were found to be homozygous for the loss of exon 7 of the SMN1 gene, except two patients who were heterozygote for exon 7 deletion [frequency of homozygocity: 90.7%]. Eleven of sixty-three [17.5%] fetal samples were found to be affected and these pregnancies were terminated. The molecular analysis of the biallelic exon 7 of the SMN1 deletion is a standard and reliable test in cases of SMA

[Seventeen years experience in precise diagnosis and prenatal diagnosis of mucopolysaccharidoses [MPS]]

Upon a scientific collaboration, families having affected offspring suspected for MPS disease were enzymaticaly analyzed. In 82 families the deficit enzymes were detected. Seventy prenatal diagnosis for parous at risk were performed, revealing 53 unaffected and 17 affected fetuses. All families with affected fetuses opted for pregnancy termination. The prenatal result of unaffected newborns confirmed the prenatal diagnosis findings. The summary of clinical findings and epidemiological distribution of MPS disorders and PND results are presented in this short report

Freeman-Sheldon syndrome: report of 6 cases

Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS [Freeman-Sheldon Syndrome] is also known as craniocarpotarsal dysplasia [or dystrophy], distal arthrogryposis type IIA [DAIIA], whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome is an autosomal dominant trait and characterized by flattened, mask-like facies, microstomia, protruding lips [as in whistling], deep-set eyes with hypertelorism, and camptodactyly with ulnar deviation of the fingers and talipes equinovarus. We are reporting 6 cases with this syndrome that were referred to our genetic center from 2000 to 2006 for cytogenetic study and clinical genetic counseling

Aarskog-Scott syndrome:Report of 7 cases and review of literature

Aarskog-Scott syndrome [ASS] is an X-linked disorder, characterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia [FGDY, OMIM No. 305400] and facio-digito-genital syndrome. The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum. We are reporting 7 cases with this syndrome that were referred to our genetic center from 1995 to 2006 for clinical genetic counseling and cytogenetic study. Key words: Aarskog-Scott syndrome; Genes, X-linked

[Genetic analysis of FMF in a small village with high frequency in North West of Iran]

Familial Mediterranean Fever [FMF] is an inherited inflammatory disorder which caused by mutations in the MEFV gene. The disease is common among Turks, Armenians and Arabs, whereas no data from the neighbor countries is available. We studied an 8 years old boy with periodic fever and recurrent abdominal pain. Genotype analysis was performed by reverse-hybridization for 12 most frequent variants. Result indicated the patient and several individuals in the family were compound heterozygote or homozygote for the mutations. Genetic analysis for the other individuals without any clinical features in the village showed an allelic frequently of 22%, which is the highest rate reported to date

[Genetic analysis for Gaucher disease in two Iranian families]

Gaucher disease [GD] is one of the lysosomal storage disorders which inherited in an autosomal recessive mode. There is no data available from the incidence of the disease in Iran. The aim of the study was to determine the type of mutations and clinical information in Iranian patients. After detection of the mutations for the parents we performed prenatal diagnosis for the pregnancies at risk. The result of genetic analysis for two families was similar and indicated L444P mutation for both diagnoses. The result indicated that the two fetuses were normal for the disease and inherited L444P mutation in heterozygote status