MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype--genetic and therapeutic implications

Article Abstract:

Familial Mediterranean fever (FMF), a recessively inherited disorder common in 90 patients of Armenian ancestry from 77 unrelated families not selected using genetic-linkage analysis, has been studied in Armenian patients. Eight mutations in the MEFV gene, of which one is a new one, account for 93% of the 163 independent FMF alleles. Both FMF alleles were in 89% of the patients. The M694B homozygous genotype was associated with more prevalent renal amyloidosis and arthritis. Genetic counseling and therapeutic implications exist.

Armenia, Health aspects, Kidneys, Amyloidosis, Kidney, Armenians, Familial Mediterranean fever, Periodic disease

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Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection

Article Abstract:

Parental mitochondrial inheritance in neonates born following intracytoplasmic sperm injection (ICSI) is evaluated bearing in mind that defective mitochondrial functions may bring on male hypofertility and that risk of paternal transmission of an mtDNA defect exists. No paternal mtDNA was detected in nine newborns and it was concluded that in those families the ICSI procedure performed with mature sperm did not alter uniparental mtDNA inheritance.

Belgium, Statistical Data Included, Usage, Mitochondrial DNA, Fertilization in vitro, Human, Human fertilization in vitro, Spermatozoa, Infertility, Male, Sperm, Male infertility

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Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

Article Abstract:

The analysis of a consamguineous family with three siblings who had bilateral aphakia, microphthalmia and complete agenesis of the ocular anterior segment is presented. The study has identified a causative gene for congenital primary aphakia (CPA) in humans and has indicated a possible critical role for FOXE3 very early in the lens developmental program.

Science & research, Gene mutations, Gene mutation, Genetic research, Aphakia

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