Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1.

Prevalence of β-Thalassemia Mutations among Northeastern Iranian Population and their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study.

Background And Objective: β-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β () gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran, we aimed to recognize the most common mutations in the region. We also investigated a possible link between these mutations and some of the relevant hematological indices.

Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.

Background: Autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of SMN1 gene in approximately 94% of SMA patients. To identify patients who retained a single SMN1 copy, SMN1 dosage analysis was performed by quantitative Real-time PCR using SYBR green dye. SMN1 dosage analysis results were utilized to identify carriers before offering prenatal diagnosis.

Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis.

Infantile malignant osteopetrosis (arOP) is an autosomal recessive disorder. Mutations in the T-cell immune regulator 1 (TCIRG1) gene were found as the cause of arOP. We found the first Iranian patient with a rare gross deletion in this gene.