ABCMdb

PMID: 18603241

Shanklin DR, Mullins AC, Baldwin HS
Cerebropulmonary dysgenetic syndrome.
Exp Mol Pathol. 2008 Oct;85(2):112-6. Epub 2008 May 28., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA3 p.Glu292Val Autopsy revealed severe interstitial pulmonary fibrosis at age 8 days with heterozygotic mutation p.E292V of ABCA3 and severe dystrophic retardation of cerebral cortex and cerebellum. Login to comment 55 ABCA3 p.Glu292Val Genetic report From Ambry Genetics (Aliso Viejo, CA): heterozygotic mutation of ABCA3 full gene, known mutation p.E292V, the same mutation found in case #8 of Somaschini et al. (2007), in 10 of 11 patients reported by Bullard et al. (2005) but not by Matsumura et al. (2006) or Shulenin et al. (2004). Login to comment 56 ABCA3 p.Glu292Val Genetic report From Ambry Genetics (Aliso Viejo, CA): heterozygotic mutation of ABCA3 full gene, known mutation p.E292V, the same mutation found in case #8 of Somaschini et al. (2007), in 10 of 11 patients reported by Bullard et al. (2005) but not by Matsumura et al. (2006) or Shulenin et al. (2004). Login to comment 84 ABCA3 p.Glu292Val The ABCA3 sequence is highly conserved in humans, rats, and mice in the region of the E292V mutation (Bullard et al., 2005), enhancing the validity of applying the results of Tachikawa et al. (2005) in mice to the scope of disorders here described as the cerebropulmonary dysgenetic syndrome. Login to comment 85 ABCA3 p.Glu292Val The ABCA3 sequence is highly conserved in humans, rats, and mice in the region of the E292V mutation (Bullard et al., 2005), enhancing the validity of applying the results of Tachikawa et al. (2005) in mice to the scope of disorders here described as the cerebropulmonary dysgenetic syndrome. Login to comment 89 ABCA3 p.Glu292Val Bullard et al. (2005), described three older individuals (ages 11,16, and 23 years) with the same missense mutation, E292V, found in our index patient, with a second mutation. Login to comment 90 ABCA3 p.Glu292Val Bullard et al. (2005), described three older individuals (ages 11,16, and 23 years) with the same missense mutation, E292V, found in our index patient, with a second mutation. Login to comment