PMID: 20943779

Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanne-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K
Familial focal congenital hyperinsulinism.
J Clin Endocrinol Metab. 2011 Jan;96(1):24-8. Epub 2010 Oct 13., [PubMed]
Sentences
No. Mutations Sentence Comment
9 ABCC8 p.Ala355Thr
X
ABCC8 p.Ala355Thr 20943779:9:242
status: NEW
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 An Fluorine-18-L-dihydroxyphenylalanine positron emission-computerised tomography scan showed a 7-mm focal lesion in the posterior sectionoftheheadofthepancreas.Bothsiblingswerefoundtobeheterozygousfortwopaternally inherited ABCC8 mutations, A355T and R1494W. Login to comment 68 ABCC8 p.Ala355Thr
X
ABCC8 p.Ala355Thr 20943779:68:74
status: NEW
view ABCC8 p.Ala355Thr details
 Genetics ABCC8 sequencing analysis identified two heterozygous mutations, A355T (c.1063GϾA) and R1494W (c.4480CϾT). Login to comment 70 ABCC8 p.Ala355Thr
X
ABCC8 p.Ala355Thr 20943779:70:17
status: NEW
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 In contrast, the A355T mutation is novel, and although it affects a residue that is wellconservedacrossspecies,itspathogenicityiscurrently uncertain. Login to comment 74 ABCC8 p.Ala355Thr
X
ABCC8 p.Ala355Thr 20943779:74:38
status: NEW
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 The heterozygous germ line mutations (A355T; R1494W) are therefore likely to be homozygous within the focal lesion. Login to comment 87 ABCC8 p.Ala355Thr
X
ABCC8 p.Ala355Thr 20943779:87:141
status: NEW
view ABCC8 p.Ala355Thr details
 The R1494W mutation is a loss of function mutation that has been identified in at least sixunrelatedprobandswithCHItodate(11).Incontrast,the A355T mutation is novel, and although it affects a residue that is well conserved across species, its pathogenicity is currently uncertain. Login to comment