Table 4 Review of published mutations related with cardiomyopathy in Alström patients
Article | CMP onset | ||||||
|---|---|---|---|---|---|---|---|
Mutation | Patient no | Type | İnfant | Adult | Prognosis | Outcome | |
JL Michaud / 1996 The Journal of Pediatrics (12) | NA | 5 | DCM | 5 | EF normal (1–10 y) | ||
JD Marshall et al./2005 Arch Intern Med (4) | Mutations in at least 1 allele of ALMS1 69 2p13-specific haplotypes,n 36 | 112 | DCM | 79 (1–16 m) | 24 (5–36 y) | 10 pt died | |
JC Smith et al. /2007 Eur J Hum Genet (23) | Pathogenic mutation in the ALMS1 gene in 8 pt | 15 | DCM | 4 | 3 | NA | |
Ozantürk A /2015 Journal of Human Genetics (25) | c.4156insAp.Thr1386Asnfs*15 c.5311C > Tp.Gln1769* c.5969C > Gp.Ser1990* c.9749C > A c.12117 + 20delT (IVS19-8delT)p.Ser3250* c.11055ins(n)331 c.11870-3 T > Gp.Val3958fs* | 8 | 8 | ||||
A Brofferio et al./2017 Molecular Genetics and Metabolism (11) | 1 c.11316_11319delAGAG p.Glu3773Trpfs*18 c.11416CNT p.Arg3806* 3 c.10535GNA p.Trp3512* c.11291GNA p.Ser 3764* 5 c.4156dupA p.Thr1386Asnfs*15 6 c.10775delC p.Thr3592Lysfs*6 c.2234CNG p.Ser 745* 8 c.10775delC p.Thr3592Lysfs*6 c.10775delC p.Thr3592Lysfs*6 10 c.10775delC p.Thr3592Lysfs*6 c.10775delC p.Thr3592Lysfs*6 15 c.4885CNT p.Gln1629* c. 5923 CNT p.Gln 1975* 16 c.592CNT p.Gln198* c.1610_1611delTC p.Leu538Glnfs22 20 c.10849GNT p.Glu3617* c.10483CNT p.Gln3495* 23 c.11314dupA p.Arg3772Trpfs*10 c.10885CNT p.Arg3629* c.1903CNT p.Gln635* c.3579CNG p.Tyr1193* | 38 | 10 | ||||
13 c.10539_10557ins(n)19 p.Lys3545Asnfs*18 c.10539_10557ins(n)19 p.Lys3545Asnfs*18 19 c.6305CNA p.Ser2102* c.10775delC p.Thr3592Lysfs*6 21 c.10775delC p.Thr3592Lysfs*6 c.3716_3719del p.Ser1240Thrfs*23 24 c.5311CNT p.Gln1769* c.5311CNT p.Gln1769* 25 c.11651_11652insGTTA p.Asn3885LeufsX9 c.4817delA p.Lys1608ArgfsX9 | 5 | NA | |||||
SA Hollander/2017 Am J Med Genet. (21) | First variant (c.2816 T > A; p.Leu939*) Second variant (c.10837_10838delCA; p.Gln3613Alafs*2) | 2 | DCM | + | |||
Nerakh G/ 2019 The Indian Journal of Pediatrics (139 | Homozygous nonsense variant c.2816 T > A (p.Leu939Ter) | 2 | DCM | + | NA | ||
Mahamid j /2013 Pediatr Cardiol (14) | Homozygous for a nonsense mutation in exon 10 of ALMS1, c.8008C > T (p.R2637X) | 2 | DCM | + | |||
Curent study | c.7911dup C (p. Asn2638Glnfs*24) (6 patient) Homozygote c.7905–7906 Ins C (p. N2636Qfs*24) (1patient) Homozygote c.7316C > A (p.Ser2439*) (2 patient) | 9 | DCM 8 Restrictive CMP 1 | 5 | 5 died (4 with the same mutation) | ||