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Related Experiment Video

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[CHARGE syndrome in a neonate].

Bo Gao1, Shu Xiao1, Xiao-Wen Chen1

  • 1Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|November 26, 2024
PubMed
Summary

A rare genetic disorder, CHARGE syndrome, was identified in an infant presenting with severe respiratory distress and distinctive facial features. Genetic testing revealed a CHD7 gene mutation, confirming the diagnosis and guiding critical care decisions.

Keywords:
CHARGE syndromeCHD7 geneNeonatePierre-Robin syndrome

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • CHARGE syndrome is a complex genetic disorder with a wide spectrum of congenital anomalies.
  • Early diagnosis is crucial for appropriate management and genetic counseling.
  • Pierre Robin sequence can present with overlapping features, necessitating differential diagnosis.

Purpose of the Study:

  • To report a case of CHARGE syndrome diagnosed via whole-exome sequencing.
  • To highlight the role of the CHD7 gene in CHARGE syndrome.
  • To emphasize the importance of multidisciplinary care in managing this condition.

Main Methods:

  • Clinical presentation and diagnostic workup of an 11-day-old female infant.
  • Whole-exome sequencing to identify genetic mutations.
  • Multidisciplinary team approach for diagnosis and treatment planning.

Main Results:

  • The infant exhibited symptoms consistent with Pierre Robin syndrome, including dyspnea and dysmorphic facial features.
  • Whole-exome sequencing identified a heterozygous c.3082A>G mutation in the CHD7 gene, confirming CHARGE syndrome.
  • Despite supportive care, the infant's prognosis was poor, leading to treatment withdrawal.

Conclusions:

  • This case underscores the utility of genetic sequencing in diagnosing rare conditions like CHARGE syndrome.
  • CHD7 gene mutations are a significant cause of CHARGE syndrome.
  • Early identification and comprehensive management are vital for improving outcomes in infants with CHARGE syndrome.