fibrodysplasia ossificans progressiva (fop, mim 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. the disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. in this study, a 17 year-old affected girl born to a father with...

Background: elexacaftor/tezacaftor/ivacaftor (ETI) is approved for CF patients with at least one F508del mutation. The concept of “Theratyping”—aligning genotypes based on their in vitro response to CFTR modulators, enabled approval ETI rarer mutations. We report a rare mutation that was responsive both and vivo. Mutation description: Q1100P an ultra-rare mutation, carried by seven Israeli Arab...

Mutations provide the raw material of evolution, and thus our ability to study evolution depends fundamentally on having precise measurements of mutational rates and patterns. We generate a data set for this purpose using (1) de novo mutations from mutation accumulation experiments and (2) extremely rare polymorphisms from natural populations. The first, mutation accumulation (MA) lines are the...

wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to over 50 years. the primary consequence for most of those with wd is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disea...

cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging,...

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...

Introduction: Arterial tortuosity syndrome (ATS), an autosomal recessive rare connective tissue disorder characterized by tortuosity, elongation and stenosis in the large and medium sized arteries. It manifestations include vascular and nonvascular connective tissue related symptoms. In this literature we describe the first cases of ATS from Iran. Case report: A six-months-old female wa...