ABCMdb

PMID: 19647838

Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
J Pediatr. 2009 Dec;155(6):854-859.e1. Epub 2009 Aug 3., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA3 p.Lys914Arg ABCA3 p.Pro147Leu Results We identified 1 infant homozygous for the g.1549C > GAA mutation (121ins2) in SFTPB for whom only the mother was heterozygous and 3 infants homozygous for mutations in ABCA3 (p.K914R, p.P147L, and c.806_7insGCT) for whom only the fathers were heterozygous. Login to comment 41 ABCA3 p.Lys914Arg With electron microscopy, dense inclusions within the lamellar bodies were identified, as reported previously with ABCA3 deficiency.4,21 Sequence analysis of ABCA3 revealed a novel homozygous A>G transition in the second nucleotide of codon 914 (c.2741A>G) that changes lysine to arginine (p.K914R) and is predicted to be ''not tolerated`` by SIFT (http://blocks.fhcrc.org/sift/SIFT.html) and ''potentially damaging`` by Polyphen (http://genetics.bwh.harvard.edu/ pph/). Login to comment 42 ABCA3 p.Lys914Arg With electron microscopy, dense inclusions within the lamellar bodies were identified, as reported previously with ABCA3 deficiency.4,21 Sequence analysis of ABCA3 revealed a novel homozygous A>G transition in the second nucleotide of codon 914 (c.2741A>G) that changes lysine to arginine (p.K914R) and is predicted to be ''not tolerated`` by SIFT (http://blocks.fhcrc.org/sift/SIFT.html) and ''potentially damaging`` by Polyphen (http://genetics.bwh.harvard.edu/ pph/). Login to comment 53 ABCA3 p.Pro147Leu Sequence analysis of ABCA3 revealed a homozygous C>T transition in codon 147 that changes a proline to leucine (c.440C>T; p.P147L) and is predicted to be deleterious by SIFT and Polyphen. Login to comment 54 ABCA3 p.Pro147Leu Sequence analysis of ABCA3 revealed a homozygous C>T transition in codon 147 that changes a proline to leucine (c.440C>T; p.P147L) and is predicted to be deleterious by SIFT and Polyphen. Login to comment 81 ABCA3 p.Lys914Arg ABCA3 p.Pro147Leu Informative variants in ABCA3 Variant ID Child Mother Father ABCA3 infant 1 rs323017 c.2514-93 A > G (Intron 19) G/G A/A A/G rs313908 c.2701-33 C > G (Intron 20) G/G C/C C/G Mutation c.2741A > G (p.K914R) G/G A/A A/G rs313909 c.3004 + 34 C > T (Intron 21) C/C T/T C/T rs1183064 c.3704-116 A > T (Intron 24) T/T A/A A/T ABCA3 infant 2 N/A c.-27 + 126 G > A (Intron 3) A/A G/G A/G Mutation c.440C > T (p.P147L) T/T C/C C/T rs170447 c.1741 + 33 G > A (Intron 14) A/A A/G A/G rs2240523 c.1742-116 C > T (Intron 14) C/C C/T C/T ABCA3 infant 3 Mutation c.806_807insGCT Ins/ins Normal/normal Ins/normal THE JOURNAL OF PEDIATRICS www.jpeds.com Vol. 155, No. Login to comment