Exploring genetic mutations in a 7-month-old male infant with osteopetrosis

  • Kamala Laohverapanich
  • พงศ์ภัค พงศ์พิชชา
  • นงนุช สิระชัยนันท์
  • ดวงฤดี วัฒนศิริชัยกุล
Keywords: osteopetrosis, CLCN7 mutation


Osteopetrosis (marble bone disease) is a group of rare inheritable metabolic bone diseases. The clinical presentation is heterogeneous due to multiple organ involvement. Severity of the disease depends on genetic mutations and modes of inheritance causing autosomal dominant, autosomal recessive as well as X-linked osteopetrosis. In this report, we described a 7-month-old male infant presenting anemia, hepatosplenomegaly and thrombocytopenia. Bone x-ray showed typical radiologic features of osteopetrosis. Mutation analysis was performed using a whole exome sequencing (WES) technique. We found that the patient harbored compound heterozygous mutations of the CLCN7 gene. The WES results were confirmed using Sanger sequencing technique. Each parent carried a CLCN7 mutation transmitted to the patient.


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รายงานผู้ป่วย (Case report)