Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Area of Science:

• Genetics
• Skeletal Dysplasias
• Developmental Biology

Background:

• Diaphanospondylodysostosis (DSD) is an extremely rare, lethal skeletal dysplasia.
• It is inherited in an autosomal recessive pattern and linked to mutations in the BMPER gene.
• Clinical features include costovertebral ossification defects, absent ribs, facial anomalies, and renal abnormalities.

Observation:

• A case report of a 2-month-old infant with DSD is presented.
• Autopsy revealed significant costovertebral ossification defects, perilobar nephrogenic rests, and periventricular leukomalacia.
• The infant was born to non-consanguineous parents.

Findings:

• Genetic analysis confirmed the diagnosis of DSD.
• A novel germline mutation in the BMPER gene (c.576 + 2dupT) was identified.
• This mutation expands the known spectrum of BMPER mutations associated with DSD.

Implications:

• This case highlights the severe phenotype associated with BMPER mutations.
• Understanding these mutations is crucial for diagnosis and genetic counseling.
• Further research into BMPER gene function may elucidate skeletal and renal development pathways.