Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.

Background: Cockayne syndrome (CS) is a rare autosomal recessive disorder with characteristic multisystem involvement including pre- or post-natal growth failure, progressive neurological dysfunction, psychomotor retardation, cerebral atrophy, microcephaly and mental retardation, due to mutations in either the ERCC8/CSA or ERCC6/CSB gene.

Method: We present two Iranian patients with remarkable growth failure, developmental delay, microcephaly, severe speech delay, vision problem, sun sensitivity, hearing loss, dental anomalies, unstable gait, mild contractures in knees, kyphosis and spasticity in lower limbs, balance disorders and typical dysmorphic features including long nose, aged face, large ears and sunken eyes. Clinical evaluation, magnetic resonance imaging, Peripheral blood karyotype, Multiplex ligation-dependent probe amplification (MLPA), and whole-exome sequencing were used to characterize etiology in two patients from two unrelated consanguineous families of Iranian descent with Cockayne syndrome.

Underexpression of family and their promoter hypermethylation in infertile men: A case-control study.

Background: Post-transcriptional microRNAs (miRNAs) have a impotrant pattern in the spermatogenesis process.

Objective: Study of the expression and methylation of family in sperm samples of infertile men.

Materials And Methods: In this case-control study, we recruited 74 infertile men (with asthenozoospermia, teratozoospermia, asthenoteratozoospermia, and oligoasthenoteratozoospermia) and 30 control samles.

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.

Background: Pathogenic mutations in TRAPPC9 are associated with autosomal recessive Intellectual Disability (ID), a major public health issue that affects about 1-3% of children worldwide.

Method: Clinical evaluation, magnetic resonance imaging, peripheral blood karyotype, Multiplex ligation-dependent probe amplification (MLPA), array CGH, and whole-exome sequencing were used to characterize etiology in three patients from two unrelated consanguineous families of Iranian descent with intellectual disability.

Results: Whole-exome sequencing showed two novel homozygous nonsense mutations (c.

Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran.

H syndrome is a rare monogenic autosomal recessive disease with characteristic cutaneous findings and multisystem involvement. The aim of this study is to present an Iranian patient with H syndrome and to describe a novel frameshift mutation in SLC29A3 gene. The patient was diagnosed with a few small areas of hyperpigmentation and accompanying hypertrichosis in the lumbar area of her back.