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Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD)

D Hettiarachchi1, S M V Subasinghe2, G G Anandagoda3

  • 1Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dineshani.sirisena@gmail.com.

BMC Medical Genomics
|April 15, 2022
PubMed
Abstract

Insights

Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is a rare genetic disorder. This case highlights a novel PCNT gene variant and an unusual presentation of MOPD Type II.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive disorder.
  • It is characterized by severe growth retardation, microcephaly, and various medical complications.
  • Pathogenic variants in the pericentrin (PCNT) gene are associated with MOPD Type II.

Observation:

  • A 2-year-old boy presented with failure to thrive, microcephaly, and distinctive facial features.
  • Clinical findings included retrognathia, small ears, a prominent nasal root, microdontia, sparse scalp hair, and clinodactyly.
  • Cardiac (atrial septal defect) and renal (bilaterally small kidneys) anomalies were also noted.

Findings:

  • Whole-exome sequencing identified compound heterozygous frameshift variants in the PCNT gene.
  • A novel variant, c.5059_5060delAA | p. Asn1687fs, was identified alongside a previously reported variant, c.9535dup (p. Val3179fs).
  • Diagnosis of MOPD Type II was confirmed, with parents identified as heterozygous carriers.

Implications:

  • This study reports a novel frameshift variant in the PCNT gene.
  • It expands the known phenotypic spectrum of Microcephalic Osteodysplastic Primordial Dwarfism Type II.
  • Genetic diagnosis is crucial for understanding and managing this rare condition.

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