[Surveying SMN gene deletions in Iranian patients with spinal muscular atrophy and prenatal diagnosis]

Spinal muscular atrophy is a group of alpha-motor neuron. There are three genes for this disorder, of which SMN with two copies centromeric and telomeric is the most important one. In 95% of SMA patient's telomeric copy of SMN is homozygously deleted and the remaining has point mutation in this gene. In most of the patient's, exon 7 and 8 of SMN 1 is deleted. Therefore, analysis of SMN1 mutation is very important for carrier detection. The aim of this study was analysis of SMN1 mutation and determination of its frequency among Iranian patients. After genetic counseling and estimation of clinical symptoms of patients based on SMA consortium, molecular analysis based on PCR-RFLP has been performed. Frequency of consanguineous marriage in our study was 60%, while most of the patients were come from central and northern part of Iran. Of 243 families, 195 were categorized as type I, 30 as type II, and 18 as type III. Analysis of exon 7 deletion among families with live affected child showed that 94% of families with SMA type I, 95% in type II families and 100% in SMA type III had homozygous deletion. In prenatal diagnosis, twenty one of ninety two [22.8%] fetal samples were found to be affected and these pregnancies were terminated. The frequency of homozygous deletion of exon 7 of SMN1 was 94%. This is in agreement with Western Europe, China, Japan, and Kuwait

[Progeroid syndrome and mutation in LMNA gene: Report of two cases from Iran]

Two Iranian cases with very rare Progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13[th] birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal, sclerodermoid-like changes, prominence of superficial vessels, gradual loss of scalp hair and eyebrows and cardiac involvement in the form of dilated cardiomyopathy. All the above findings were suggestive of precocious ageing and the clinical diagnosis of Werner syndrome. The second case is a 6-year-old boy with typical clinical findings of Progeria or Hutchinson-gilford syndrome. The diagnoses were confirmed by molecular analysis of the samples in Washington and Marseille. In the 1st case there was no molecular abnormality in Warner's gene [WRN], but there was a mutation in the LMNA gene. The mutation was substitution of C to G in codon number 57, and the codon GCA [Alanine] changed to CCA [Proline]. So, in the codon 57 of the protein lamin A/C proline had replaced alanine [A57>P]. The mutation in the 2nd case [Progeria=Hutchinson-gilford syndrome] was a point mutation at the exon 11 of lamin A/C protein resulting in the replacement of thymine by cytosine in the nucleotide number 1824 [1824C>T]. The importance of lamins and the mechanism and pathogenesis of Progeroid syndromes are discussed briefly

[Progeroid syndrome and mutation in LMNA gene: report of two cases from Iran]

Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13[th] birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness. The cardinal clinical findings were growth retardation, subcutaneous fat loss, skin dryness and wrinkling, scattered focal sclerodermoid-like changes, prominence of superficial vessels, gradual loss of scalp hair and eyebrows and cardiac involvement in the form of dilated cardiomyopathy. All the above findings were suggestive of precocious ageing and the clinical diagnosis of Werner syndrome. The second case is a 6-year-old boy with typical clinical findings of Progeria or Hutchinson-Gilford syndrome. The diagnoses were confirmed by molecular analysis of the samples in Washington and Marseille. In the first case there was no molecular abnormality in Werner's gene[WRN], but there was a mutation in the LMNA gene. The mutation was substitution of C to G in codon number 57, and the codon GCA [alanine] changed to CCA [proline]. So, in the codon 57 of the protein Lamin A/C proline had replaced alanine [A57>P]. The mutation in the second case [Progeria=Hutchinson-Gilford syn.] was a point mutation at the exon 11 of Lamin A/C protein resulting in the replacement of thymine by cytosine in the nucleotide number 1824[1824C>T]. The importance of lamins and the mechanism and pathogenesis of progeroid syndromes are discussed briefly