Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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. The patient was a 5-year-old girl with macrocephaly, facial dysmorphism, blindness, mental retardation, hepatosplenomegaly, pancytopenia, and osteosclerotic changes in the skull and limb. Molecular analysis was performed using reverse transcriptase-polymerase chain reaction for exons 10-19 of the TCIRG1 gene followed by whole gene sequencing. She showed a 275 bp unexpected amplified segment. Sequencing revealed a gross deletion in exons 10-15 transcript region of TCIRG1 that affected codon 389 to 518. Various types of mutations in the TCIRG1 gene in arOP have been reported, however, gross deletions are reported rarely. This gross deletion is the first mutation reported among Iranian patients in this gene. This deletion is also the largest deletion of TCIRG1 gene reported to date.
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PMID:Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. 1894 80

Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.
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PMID:Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. 2332 73