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Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant

Jubara Alallah1,2,3, Loujen Omar Alamoudi2,3, Reham Mohmmed Makki2,3

  • 1Neonatology Section, Paediatric Department, King Abdulaziz Medical City-WR, Ministry Of National Guard, Saudi Arabia.

International Journal of Pediatrics & Adolescent Medicine
|June 6, 2022
PubMed

Insights

A novel mutation in the LIFR gene was identified in a Saudi infant with severe skeletal dysplasia and failure to thrive. This finding advances understanding of rare genetic disorders affecting bone development.

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasia

Background:

  • Skeletal dysplasias are a heterogeneous group of genetic disorders characterized by abnormal bone and cartilage development.
  • Consanguinity increases the risk of autosomal recessive genetic conditions.

Observation:

  • A Saudi infant presented with severe skeletal dysplasia, including short stature, limb bowing, joint contractures, failure to thrive, and respiratory distress.
  • Clinical features suggested a severe genetic syndrome impacting skeletal and organ development.

Findings:

  • Whole-exome sequencing revealed a novel homozygous mutation in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
  • This mutation is strongly associated with the observed severe phenotype.

Implications:

  • Identifies a new genetic cause for severe skeletal dysplasia and associated complications.
  • Highlights the role of LIFR in skeletal development and function.
  • Provides a basis for genetic counseling and potential future therapeutic strategies for affected families.

Keywords:
HyperthermiaHypertoniaSchwartz Jampel syndromeSkeletal dysplasiaStüve-Wiedemann syndrome

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