ABCMdb

PMID: 20685672

Bellanne-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fekete C, de Lonlay P
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
J Med Genet. 2010 Nov;47(11):752-9. Epub 2010 Aug 3., [PubMed]

Sentences

No. Mutations Sentence Comment

102 ABCC8 p.Arg74Gln ABCC8 p.Tyr179Cys ABCC8 p.Leu135Val ABCC8 p.Val21Asp J Med Genet 2010;47:752e759. doi:10.1136/jmg.2009.075416 Original article Table 2 Characteristics of ABCC8 and KCNJ11 mutations Gene Location Nucleotide sequence change Protein effect Occurrence Histopathological / radiological diagnosisz Genetic Statusy References ABCC8 Exon 1 c.62T/A p.Val21Asp 1 DPVS hmz Sandal et al, 200944 ABCC8 Exon 2 c.221G/A p.Arg74Gln 1 DH c-htz Flanagan et al, 200817 ABCC8 Exon 2 c.259_268del p.Cys87fs 1 FH This report ABCC8 Exon 3 c.403C/G p.Leu135Val 1 DH c-htz This report ABCC8 Exon 4 c.428G/A p.Trp143X 3 FH, DH, DPET c-htz (x2) This report ABCC8 Exon 4 c.496C/T p.Gln166X 1 DPET c-htz This report ABCC8 Exon 4 c.536A/G p.Tyr179Cys 2 FH, DPET hmz Damaj et al, 200845 ABCC8 Intron 4 c.580-1G/C p.? Login to comment 103 ABCC8 p.Gly228Asp 1 DH c-htz This report ABCC8 Exon 5 c.655C/T p.Gln219X 2 DPET, DPVS c-htz;htzP Flanagan et al, 200817 ABCC8 Exon 5 c.683G/A p.Gly228Asp 1 FH Flanagan et al, 200817 ABCC8 Exon 5 c.727_756del30 p.Lys243_Lys252del 1 DH hmz This report ABCC8 Exon 5 c.742C/T p.Arg248X 1 DPET hmz Flanagan et al, 200817 ABCC8 Exon 6 c.950delC p.Pro317fs 1 DPET c-htz This report ABCC8 Exon 7 c.1176G/A p.? Login to comment 104 ABCC8 p.Leu503Pro ABCC8 p.Leu511Met ABCC8 p.Gln444Arg 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 8 c.1177-?_1332+?del p.Thr393_Gln444del52 1 DH c-htz This report ABCC8 Exon 8 c.1331A/G p.Gln444Arg 1 FH Damaj et al, 200845 ABCC8 Exon 10 c.1508T/C p.Leu503Pro 1 FH Flanagan et al, 200817 ABCC8 Exon 10 c.1531C/A p.Leu511Met 2 DH htz, htznovo This report ABCC8 Intron 10 c.1630+1G/T p.? Login to comment 105 ABCC8 p.Arg74Gln ABCC8 p.Tyr179Cys ABCC8 p.Leu135Val ABCC8 p.Val21Asp ABCC8 p.Leu580Phe 3 FH (x2), DPET htzP Flanagan et al, 2008 ABCC8 Exon 12 c.1732_1746dup15 p.Ala578_Leu582dup5 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 12 c.1738C/T p.Leu580Phe 1 DPET hmz This report ABCC8 Exon 12 c.1792C/T p.Arg598X 2 FH, DH c-htz Flanagan et al, 200817 ABCC8 Intron 13 c.1923+5G/T p.? Login to comment 106 ABCC8 p.Gly228Asp ABCC8 p.Gly684Glu 1 FH This report ABCC8 Exon 14 c.2035_2036insCTGT p.Val679fs 1 DH hmz This report ABCC8 Exon 15 c.2051G/A p.Gly684Glu 1 FH This report ABCC8 Exon 15 c.2064G/A p.Trp688X 1 FH Giurgea et al, 200446 ABCC8 Intron 15 c.2116+2T/C p.? Login to comment 107 ABCC8 p.Gly716Asp ABCC8 p.Leu503Pro ABCC8 p.Leu511Met ABCC8 p.Gln444Arg 1 DH c-htz This report ABCC8 Exon 16 c.2124_2127delGACT p.Thr709X 1 FH This report ABCC8 Exon 16 c.2147G/A p.Gly716Asp 1 DPET htzm This report ABCC8 Exon 16 c.2153delG p.Gly718fs 1 DH htzP This report ABCC8 Exon 20 c.2425C/T p.Gln809X 1 DH c-htz Damaj et al, 200845 ABCC8 Exon 20 c.2473G/A p.Glu825Lys 1 DPET htzP This report ABCC8 Exon 22 c.2560-?_2697+?del p.Asp854_Trp899del46 1 DH c-htz This report ABCC8 Exon 22 c.2581G/C p.Asp861His 1 DPVS c-htz This report ABCC8 Exon 22 c.2669A/C p.Lys890Thr 1 DH htzP Flanagan et al, 200817 ABCC8 Exon 22 c.2672T/C p.Leu891Pro 1 DH htznovo This report ABCC8 Exon 23 c.2702T/C p.Ile901Thr 2 DH, DPET c-htz This report ABCC8 Exon 23 c.2784G/A p.Trp928X 1 FH This report ABCC8 Exon 23 c.2803C/T p.Gln935X 1 DPET c-htz This report ABCC8 Exon 24 c.2860C/T p.Gln954X 1 FH Flanagan et al, 200817 ABCC8 Intron 24 c.2924-9G/A p.? Login to comment 108 ABCC8 p.Leu580Phe 3 FH (x2), DPET htzP Flanagan et al, 2008 ABCC8 Exon 12 c.1732_1746dup15 p.Ala578_Leu582dup5 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 12 c.1738C/T p.Leu580Phe 1 DPET hmz This report ABCC8 Exon 12 c.1792C/T p.Arg598X 2 FH, DH c-htz Flanagan et al, 200817 ABCC8 Intron 13 c.1923+5G/T p.? Login to comment 109 ABCC8 p.Gly684Glu 1 FH This report ABCC8 Exon 14 c.2035_2036insCTGT p.Val679fs 1 DH hmz This report ABCC8 Exon 15 c.2051G/A p.Gly684Glu 1 FH This report ABCC8 Exon 15 c.2064G/A p.Trp688X 1 FH Giurgea et al, 200446 ABCC8 Intron 15 c.2116+2T/C p.? Login to comment 110 ABCC8 p.Gly716Asp 1 DH c-htz This report ABCC8 Exon 16 c.2124_2127delGACT p.Thr709X 1 FH This report ABCC8 Exon 16 c.2147G/A p.Gly716Asp 1 DPET htzm This report ABCC8 Exon 16 c.2153delG p.Gly718fs 1 DH htzP This report ABCC8 Exon 20 c.2425C/T p.Gln809X 1 DH c-htz Damaj et al, 200845 ABCC8 Exon 20 c.2473G/A p.Glu825Lys 1 DPET htzP This report ABCC8 Exon 22 c.2560-?_2697+?del p.Asp854_Trp899del46 1 DH c-htz This report ABCC8 Exon 22 c.2581G/C p.Asp861His 1 DPVS c-htz This report ABCC8 Exon 22 c.2669A/C p.Lys890Thr 1 DH htzP Flanagan et al, 200817 ABCC8 Exon 22 c.2672T/C p.Leu891Pro 1 DH htznovo This report ABCC8 Exon 23 c.2702T/C p.Ile901Thr 2 DH, DPET c-htz This report ABCC8 Exon 23 c.2784G/A p.Trp928X 1 FH This report ABCC8 Exon 23 c.2803C/T p.Gln935X 1 DPET c-htz This report ABCC8 Exon 24 c.2860C/T p.Gln954X 1 FH Flanagan et al, 200817 ABCC8 Intron 24 c.2924-9G/A p.? Login to comment 119 ABCC8 p.Gly716Asp ABCC8 p.Gly716Val ABCC8 p.Gly716Val There is strong evidence that the identified mutation Gly716Asp is pathogenic: (1) it is located in the first nucleotide binding domain, (2) the same residue was reported to be altered (Gly716Val) in a homozygous recessive form of CHI resistant to diazoxide30 and (3) the functional study of Gly716Val showed a reduced surface expression of the mutant channel.31 Among the eight paternally inherited cases, no clinical symptom was reported in the fathers at the time of the child`s diagnosis. Login to comment 123 ABCC8 p.Gly716Asp ABCC8 p.Gly716Val ABCC8 p.Gly716Val There is strong evidence that the identified mutation Gly716Asp is pathogenic: (1) it is located in the first nucleotide binding domain, (2) the same residue was reported to be altered (Gly716Val) in a homozygous recessive form of CHI resistant to diazoxide30 and (3) the functional study of Gly716Val showed a reduced surface expression of the mutant channel.31 Among the eight paternally inherited cases, no clinical symptom was reported in the fathers at the time of the child`s diagnosis. Login to comment