Clinical and echocardiographic characteristics of patients with hypertrophic cardiomyopathy carrying sarcomeric and rare variants (MAF≤ 0.5% in control population) in GATA genes
| GATA gene | Number of carriers | Position | Nucleotide variant | Amino acid change | Sarcomeric gene | Number of carriers | dbSNP ID | Position | Amino acid change | Sex/age | IVS | Clinical profile |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2 | 1 | E1 | c.-77G>A | MYH7 | 1 | – | E16 | p.Ala583Val | M/38 | 23 | Dyspnea (class III–IV), angina, syncope, palpitations | |
| 1 | E6 | c.*508G>A | MYH7 | 1 | rs767300277 | E39 | p.Ile1927Phe | F/52 | 16 | Angina | ||
| 4 | 1 | E2 | c.-306C>T | MYH7 | 1 | rs201307101 | E32 | p.Lys1459Asn | F/56 | 19 | Dyspnea (class III–IV), angina, arrhythmia, murmur, palpitations | |
| 1 | E3 | c.699G>A | p.Thr233= | MYBPC3 | 1 | rs121909374 | E18 | p.Glu542Gln | M/57 | 20 | Angina, murmur | |
| 1 | E6 | c.1056C>T | p.Asn352= | TNNT2 | 1 | rs397516470 | E11 | p.Glu163del | F/35 | 28 | Dyspnea (class I–II), palpitations | |
| 6 | 1 | E1 | c.-181G>A | – | TNNT2 | 1 | rs121964856 | E9 | p.Arg92Gln | F/– | 17 | Palpitations |
| 1 | E2 | c.851C>G | p.Ala284Gly | ACTC1 MYH7 | 1 1 | rs193922680 rs371898076 | E3 E18 | p. Glu101Lys p.Arg663His | F/25 F/51 | 17 29 | Asymptomatic Dyspnea (class I–II), angina, murmur | |
| 2 | E7 | c.1663C>G | p.Pro555Ala | MYBPC3 | 1 | – | E7 | p.Gly263del | M/49 | 17 | Asymptomatic |
dbSNP ID, single-nucleotide polymorphism identification in the database dbSNP; E, exon; F, female; IVS, interventricular septum thickness (mm); M, male.
Class refers to New York Heart Association functional class. Positions of variants based on GATA2 RefSeq NM_032638.4, NP_116027.2; GATA4 RefSeq NM_002052.3, NP_002043.2; GATA6 RefSeq NM_005257.3, NP_005248.2; MYH7 RefSeq NP_000248.2; MYBPC3 RefSeq NP_000247.2; TNNT2 RefSeq NP_001263276.1; ACTC1 RefSeq NP_005150.1.