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Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

Chia-Hua Chiu1, Joseph Thakuria, Pankaj B Agrawal

  • 1Division of Newborn Medicine, Department of Medicine, Children's, Hospital, Boston, MA, USA.

Indian Journal of Pediatrics
|December 17, 2009
PubMed

Insights

This report details the first infant diagnosed with both CHARGE syndrome and Marfan syndrome. Genetic testing confirmed CHD7 and FBN1 mutations, highlighting a rare dual diagnosis in a pediatric patient.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • CHARGE syndrome is a complex genetic disorder affecting multiple organs.
  • Marfan syndrome is a genetic connective tissue disorder impacting the skeletal, ocular, and cardiovascular systems.

Observation:

  • A male infant presented with multiple congenital anomalies suggestive of CHARGE syndrome.
  • The patient's father exhibited physical characteristics consistent with Marfan syndrome.

Findings:

  • Genetic analysis revealed a heterozygous CHD7 gene mutation (c.3806_11del6insA) in the infant, confirming CHARGE syndrome.
  • A heterozygous FBN1 gene mutation (c.3990insC) was identified in both the infant and his father, confirming Marfan syndrome.

Implications:

  • This case represents the first documented instance of an infant with a dual diagnosis of CHARGE and Marfan syndromes.
  • Understanding the genetic basis of this dual diagnosis can inform clinical management and genetic counseling for affected families.
  • Further research is warranted to explore potential genotype-phenotype correlations and the clinical significance of co-occurring CHD7 and FBN1 mutations.

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