PMID: 18796520

Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fekete C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. Epub 2008 Sep 16., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCC8 p.Tyr179Cys
X
ABCC8 p.Tyr179Cys 18796520:58:344
status: NEW
view ABCC8 p.Tyr179Cys details
 Four focal and two diffuse forms of neonatal hyperinsulinism are studied Case CHI type Gene Location Nucleotide change Protein effect 1 FoCHI ABCC8 Exon 33 c.4040_4045del p.Ile1347_Gln1348del 2 FoCHI ABCC8 Exon 8 c.1331AϾG p.Gln144Arg 3 FoCHI ABCC8 Intron 32 c.3992-9GϾA p.?, aberrant splicing 4 FoCHI ABCC8 Exon 4 c.536AϾG p.Tyr179Cys 5 DiCHI ABCC8 Exons 12 and 20 ͓c.1792CϾT͔ϩ͓c.2425CϾT͔ ͓p.Arg598ter͔ϩ͓p.Gln809X͔ 6 DiCHI NA ABCC8 mutation was proven for the four focal form cases and one of the diffuse form cases. Login to comment