Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

doi:10.1016/j.jpeds.2009.06.006

Article

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

The Journal of pediatrics - 1 Dec 2009

Hamvas Aaron, Nogee Lawrence M, Wegner Daniel J, Depass Kelcey, Christodoulou John, Bennetts Bruce, McQuade Leon R, Gray Peter H, Deterding Robin R, Carroll Travis R, Kammesheidt Anja, Kasch Laura M, Kulkarni Shashikant, Cole F Sessions

Abstract excerpt

OBJECTIVE: To characterize inheritance of homozygous, rare, recessive loss-of-function mutations in surfactant protein-B (SFTPB) or ATP binding cassette, subfamily A, member 3 (ABCA3) genes in newborns with lethal respiratory failure. STUDY DESIGN: We resequenced genes from parents whose infants were homozygous for mutations in SFTPB or ABCA3. For infants with only 1 heterozygous parent, we performed...

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Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

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