PMID: 25341504

Beziau DM, Barc J, O'Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baro I
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24., [PubMed]
Sentences
No. Mutations Sentence Comment
129 ABCC9 p.Ile146Asn
X
ABCC9 p.Ile146Asn 25341504:129:629
status: NEW
view ABCC9 p.Ile146Asn details
ABCC9 p.Ile146Asn
X
ABCC9 p.Ile146Asn 25341504:129:794
status: NEW
view ABCC9 p.Ile146Asn details
 The J point elevation and the coved type ST-segment elevation observed in high precordial lead (V1H, V2H, V3H recorded at the third ICS) remained significant after the test and after correction of conduction disturbance Table 1 Clinical and genetic data of the family members ID Age (year) Basal ECG ECG during ajmaline challenge Genetic results PR (ms) QRS (ms) QT (ms) QTc (ms) T-wave aspect QRS aspect ST-segment amplitude (mm) ST-segment aspect Result of the ajmaline challenge PR (ms) QRS (ms) ST-segment amplitude (mm) ST-segment aspect SCN5A CACNA1C ABCC9 I-2 85 160 80 360 412 Normal Normal 0 Normal 0 NA NA NA NA NC NC I146N II-1 62 180 95 340 350 Tall Normal 0 Normal Negative 200 120 0 Normal NC N300D NC II-2 49 138 70 318 385 Normal Normal 0 Normal Positive 171 104 6 Coved NC NC I146N II-3 52 200 100 322 347 Normal Normal 0 Normal Positive 270 120 3 Coved NC N300D NC II-4 57 200 120 368 385 Normal Normal 0 Normal Negative 200 120 0 Normal Q1695* NC NC III-1 26 200 120 380 370 Normal Parietal bloc 1 Saddle back Positive 220 200 3 Coved Q1695* N300D NC III-2 23 206 108 351 347 Tall Normal 1 Normal Positive 240 200 3 Coved Q1695* N300D NC III-3 20 140 95 340 340 Tall Normal 0 Normal Positive 200 110 10 Coved NC N300D NC III-4 19 140 80 335 348 Tall Normal 0 Normal Negative 160 90 2 Saddle back NC N300D NC NA not available, NC non carrier Fig. 2 a Pedigree, phenotype and genotype of the family. Login to comment 148 ABCC9 p.Ile146Asn
X
ABCC9 p.Ile146Asn 25341504:148:224
status: NEW
view ABCC9 p.Ile146Asn details
 In this patient, we found a rare SNP (rs149325742, MAF = 0.0077 %) corresponding to the substitution of A[T at the position chr12:22070007, leading to an amino acid changing an isoleucine to an asparagine in position 146 (p.I146N). Login to comment