Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant
نویسندگان
چکیده
Infantile malignant osteopetrosis (IMO) is a rare congenital disease that is characterized by an impaired function or differentiation of osteoclasts. IMO is the most severe type of osteopetrosis. Patients usually present various fatal manifestations soon after birth and die in infancy or childhood. Clinical features include bone marrow failure resulting in pancytopenia, hepatosplenomegaly, blindness secondary to optic nerve compression, hydrocephalus, and other neurological complications.[1] T‐cell immune regulator 1 (TCIRG1, Gene ID: 10312) is one of the main genes that are responsible for the majority of IMO cases. Mutations in TCIRG1 associated with general clinical features have been reported in some studies.[2] In this study, we reported the ocular manifestations and genetic findings of an IMO patient.
منابع مشابه
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...
متن کاملA Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
متن کاملA Review of The Role of The Microbiome on Immune Responses and Its Association With Cystic Fibrosis
In recent years, the microbiome has been recognized as a key regulator of immune responses. Evidence suggests that changes in the microbiome can lead to chronic disease and even exacerbation of the disease. Impairment of innate immunity resulting from microbial incompatibility may worsen host susceptibility to infection and exacerbate chronic lung diseases. Specific microbes play a key role in ...
متن کاملThe Mutation of the rpoS Gene, the Central Regulator of Stationary Phase, Affects the Cell Division in Flexibacter chinensis
A one kb portion of the rpoS gene from Flexibacter chinensis was isolated by PCR, sequenced and compared to the rpoS gene of a variety of other organisms. The gene was found to be 98% similar to previously sequenced genes. Mutation of the rpoS gene with tri-parental mating produced strain JR101 and the growth rate of the mutant was compared with that of the wild-type. The mutant grew slower, an...
متن کاملA Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
متن کامل