A Rare Combination of Compound Heterozygous Mutations in the Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.

Background: The gene mutations have been linked to the development of phenylketonuria (PKU), which is recognized as the most common inborn metabolic disorder, and is caused by a deficiency in the phenylalanine hydroxylase () enzyme. The Iranian population, known for its diversity and high consanguinity, offers a valuable sample for studying autosomal recessive disorders. Our study investigated three unrelated families with PKU from Iran, utilizing clinical, laboratory, and computational approaches.

A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.

Background: Infantile-onset inflammatory bowel disease (IOIBD) is a gastrointestinal inflammatory condition often associated with monogenic disorders and is frequently caused by Interleukin-10 deficiencies. This study aimed to identify the mutation responsible for IBD in an 8-year-old patient from an Iranian family with consanguineous parents.

Methods: Whole-exome sequencing (WES) was employed to identify disease-causing variations.

Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.

Background: Primary autosomal recessive microcephaly (MCPH) is a rare developmental disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced brain size. It is a genetically heterogeneous condition, and several genes have been identified as associated with MCPH.

Methods And Results: In this study, we utilized whole-exome sequencing (WES) to identify disease-causing variations in two brothers from an Iranian family affected by MCPH, who had consanguineous parents.