Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease

Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1‐q24.2 by microarray‐b...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2010-05, Vol.152A (5), p.1257-1262
Main Authors: Yu, Shihui, Shao, Lei, Kilbride, Howard, Zwick, David L.
Format: Article
Language:English
Subjects:
aCGH
Biological and medical sciences
Capillaries - abnormalities
Chromosome aberrations
Comparative Genomic Hybridization
deletion
DNA Copy Number Variations - genetics
Fatal Outcome
Female
Follow-Up Studies
Forkhead Transcription Factors - genetics
FOXC2
FOXF1
Gene Dosage - genetics
Haploidy
haploinsufficiency
Heart Defects, Congenital - complications
Heart Defects, Congenital - genetics
Humans
Infant, Newborn
Male
Medical genetics
Medical sciences
monosomy 16q24
Parents
Polymerase Chain Reaction
Pregnancy
Pulmonary Alveoli - abnormalities
Pulmonary Alveoli - pathology
Reproducibility of Results
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Summary:Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1‐q24.2 by microarray‐based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (FOXF1 and FOXC2) involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro‐imbalances as pathogenic causes in neonates with unexplained congenital anomalies. © 2010 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33378