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. 2021 May 5;185(8):2464–2470. doi: 10.1002/ajmg.a.62231

TABLE 1.

Summary of published cases with Nexilin dilated cardiomyopathy

Number Author Sex Age at onset DNA sequence change Amino acid change Clinical outcome Remark
Homozygous
1 Patient 2 Female Fetal 1174C > T R392* Died after 2 weeks
2 Al‐Hassnan et al. ? 1 month 1582‐1584del GAA528del Severe DCM Sibling of patient 3
3 ? ? 1582‐1584del GAA528del Severe DCM Sibling of patient 2
Heterozygous
4 Kean et al. Male 2 months 1723G > T E575X Severe DCM, improved later, in good clinical condition at 21 years Twin of patient 5, additional SCN5A mutation
5 Male 2 months 1723G > T E575X Mildly reduced LV systolic function at 21 years Twin of patient 4, additional SCN5A mutation
6 Patient 1 Male 3 months 1949_1951del G650del Severe DCM, improved later, in good clinical condition at 11 years
7 Klauke et al. Male 5 years 1955A > G Y652C Severe DCM, ventricular assist device implantation at 22 years
8 Hassel et al. Female 35 years 1948‐1950del G650del DCM, NYHA I
9 Female 40 years 1955A > G Y652C Severe DCM, NYHA II
10 Female 49 years 1948‐1950del G650del Severe DCM, NYHA III
11 Male 51 years 1831C > A P611T Severe DCM, NYHA III
12 Male 51 years 1948‐1950del G650del Severe DCM, NYHA II
13 Male 52 years 1948‐1950del G650del Severe DCM, NYHA II
14 Male 56 years 1948‐1950del G650del Severe DCM, NYHA II
15 Female 58 years 1955A > G Y652C Severe DCM, received heart transplantation
16 Female 65 years 1948‐1950del G650del Severe DCM, NYHA II
17 Haas et al. Male ? 1174C > T R392* ?

Abbreviation: DCM, dilated cardiomyopathy.