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Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case

Zhimin Xiong1, Yanmei Lu, Jinjie Xue

  • 1State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China. xiakun@sklmg.edu.cn.

Journal of Medical Case Reports
|March 19, 2013
PubMed

Insights

This study identifies a homozygous R527C mutation in the LMNA gene in two Han Chinese siblings with Hutchinson-Gilford progeria syndrome. The findings expand the known clinical spectrum of this rare premature aging disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder causing premature aging.
  • HGPS has a low incidence, with affected individuals typically succumbing to cardiovascular events by age 13.4.
  • The LMNA gene is implicated in HGPS.

Purpose of the Study:

  • To genetically diagnose and describe the clinical manifestations of HGPS in two Han Chinese siblings.
  • To investigate the role of the LMNA gene in the affected siblings and their parents.

Main Methods:

  • Genetic screening of the LMNA gene in two siblings diagnosed with HGPS and their unaffected parents.
  • Clinical and radiological evaluation of the affected siblings.

Main Results:

  • A homozygous R527C mutation in the LMNA gene was identified in both affected siblings.
  • Both parents were found to be heterozygous carriers of the R527C variant.
  • The elder sibling presented with classic HGPS features and overlapping mandibuloacral dysplasia phenotype.

Conclusions:

  • The identified LMNA mutation expands the known spectrum of HGPS.
  • Phenotypic findings contribute to a broader understanding of LMNA-associated diseases.
  • This case report highlights the genetic basis and clinical variability within HGPS.
Abstract

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