Novel Missense Variation in NDUFA9 Gene in an Iranian Patient with Fatal Leigh Syndrome

Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome

Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family.   Case Report: The...

Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

a novel missense mutation in the gne gene in an iranian patient with hereditary inclusion body myopathy

hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families

Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It  has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family