Yunis-varon syndrome: the first report of two Iranian cases

The Yunis-Varon syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles [cleidocranial dysplasia], absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varon syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypo plastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varon syndrome

Fraccaro syndrome: report of two Iranian casesþ:þ an infant and an adult in a family

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis,cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus [PDA], Atrial septaldefect [ASD], mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome

[Tay-sachs disease report of two affected Iranian cases and review of literature]

Tay-Sachs disease is a rare autosomal recessive disorder of sphingolipid metabolism, caused by deficiency of enzyme beta hexosaminidase A, that leads to accumulation of GM2 ganglioside in cellular lysosomes. Clinical findings are progressive weakness, gradual loss of aquired neuromotor skills, and deterioration of intelligence from about 3 to 6 months of age, as well as seizure attacks and blindness. There is also evidence on progressive neurodegeneration. In most of the patients bilateral cherry red spot were reported on funduscopy. In this report, we present two patients with Tay-Sachs disease, which are confirmed by enzyme assay. In both of them beta hexosaminidase A activity were strongly decreased

[Cockayne syndrome: reporting a case from Iran with a novel mutation]

Cockayne syndrome is a very rare genetic disorder with a recessive autosomal inheritance. The disease is characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. We report here an Iranian family with one affected child who is suffering from Cockayne syndrome. Cardinal features were failure to thrive, short stature, premature aging, microcephaly, dysarthric speech, photosensivity, sunken eyes, and dental caries. There was no blindness or deafness, and the fundus examination showed tapetoretinal degeneration. Direct sequencing of all coding sequences of CSA and CSB genes, showed a novel mutation [c.2382+57G>T] in intron 10 of CSB that was not reported before. This variation might perturb splicing in CSB. However to prove the pathogenicity of this mutation mRNA analysis on fibroblast is planned to be investigated

point mutations of mitochondrial tRNA threonine and proline in idiopathic repeated pregnancy loss

Mitochondrial transfer RNAs [tRNA] genes are essential components of protein biosynthesis. These genes are hotspots for mutations. These mutations are associated with a wide spectrum of human disease. Many genetic factors are known in assessment of repeated pregnancy loss [RPL]. The aim of this study was analysis of tRNA[Thr] and tRNA[Pro] in women with RPL. The nucleotide variations of threonine and proline were investigated in 96 women with idiopathic repeated pregnancy loss. The related mitochondrial area was amplified using a polymerase chain reaction [PCR]. The PCR products were demonstrated by 2% agarose gel electrophoresis, and all the positive samples were purified and verified by an automated DNA sequencing method. The sequence analysis revealed 4 mutations in tRNA[Thr]. These mutations were A15907G in 2 cases [2.08%], A15924G in 3 cases [3.12%], G15928A in 10 cases [10.42%] as the most common mutations and G15930A in 3 cases [3.12%] as a novel mutation. Also, the result of tRNA[pro] sequencing showed the T15972C mutation in 1 woman [1.04%] as a novel mutation. These tRNAs mutations can alter their steady state level and affect the structure of tRNAs. It results in protein synthesis defects and, in turn, mitochondrial dysfunction. The mutations of these genes may help in the assessment of RPL. Further study of an expanded series of these tRNA mutants is recommended to describe their etiologic role in idiopathic RPL

[Prenatal diagnosis of chromosomal abnormalities by amniocentesis: report of 261 cases]

Amniocentesis is a technique for detection of chromosomal abnormalities in the unborn fetuses. The technique is being applied to the all high risk pregnancies, mostly in advanced maternal ages and abnormal results in the 1st or 2nd trimester pregnancies. In current situation, first trimester screening is being done in the 11 to 13 weeks and 6 days of gestation, and mid-trimester screening [between weeks 15 to 20]. We report the result of our samples in this article. 261 pregnancies were followed and screened by 1st and 2nd trimester screening by Iranian Fetal Foundation protocols in an 18 months period [from January 2007 to July 2008]. Advanced maternal ages [35 years and more], or detected a balanced structural chromosomal abnormalities in one of the parents were indications for amniocentesis in this group. Amniocentesis was performed in the 261 cases during the mentioned period. In all of the culture tubes [100%] cell growth was successful. Mean of the time for screening and reporting the results was 12 days. Twelve affected fetuses [4.6%] were detected. The most common abnormalities were Down's syndrome and balanced translocation. First and second trimester screening is recommended to all pregnancies by international FMF protocol. Whenever the results showed that the pregnancy is prone to the risk then amniocentesis is highly recommended to detect chromosomal abnormalities

[Cat cry [Cri du chat] syndrome [report of an Iranian family with two affected offspringdue to maternal balanced translocation, and review of the literature]]

Herein an Iranian family with two affected offspring with mental retardation and dysmorphic features is being reported. On detailed investigation they have been diagnosed that are suffering from Cat cry syndrome. Because the two children were product of mothers two separate husbands, she was suspected to be balanced carrier for a chromosome abnormality. Chromosome analysis in the mother showed that she is carrier of a balanced translocation between chromosomes 5 and 20. The mother married again, and prenatal diagnosis by amniocentesis had been carried out on her third pregnancy. The fetus was a normal male and now he is about one year old healthy baby