Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.

ABSTRACT:

Background

Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinically, IMO can be diagnosed with medical examination, bone mineral density test and whole genome sequencing.

Case presentation

We present the case of a 4-month-old male infant with abnormal skull development, hypocalcemia and premature closure of the cranial sutures. Due to the hyper bone density showed by his radiographic examination, which are characteristic patterns of IMO, we speculated that he might be an IMO patient. In order to confirm this diagnosis, a high-precision whole exome sequencing of the infant and his parents was performed. The analysis of high-precision whole exome

SUBMITTER: Wu P 

PROVIDER: S-EPMC8246672 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature