Clinical features of Laminopathy mutations on tail region of LMNA gene
| Mutation . | Mutation status . | Clinical features . | References . | Affinity to BAF (Samson et al., 2018) . |
|---|---|---|---|---|
| Q432X | Heterozygous | DCM, CCD, asymptomatic | Møller et al. (2009) | ND |
| R435C | Heterozygous | DCM, CCD, asymptomatic | Vytopil et al. (2003), Madej-Pilarczyk et al. (2009) | − |
| Homozygous | progeroid syndrome, myopathy, RD | |||
| R453W | Heterozygous | EDMD, LGMD, CCD, AF, asymptomatic | Bonne et al. (1999), Bonne et al. (2000), di Barletta et al. (2000), Brown et al. (2001), Colomer et al. (2002), Vytopil et al. (2003), Muchir et al. (2004), Golzio et al. (2007), Mitsuhashi et al. (2010) | ++ |
| R471C | Heterozygous | progeroid syndrome, HCM, myopathy, DCM, CCD, asymptomatic | Cao and Heqele (2003), Zirn et al. (2008), Rudbeck-Resdal et al. (2019), Rupp et al. (2019) | + |
| Homozygous | MAD, EDMD | |||
| R482W | Heterozygous | FPLD, diabetes, IR, GI, dyslipidemia, NASH, PHA, euthyroid goiter, polycystic ovaries, retinopathy, extrapyramidal syndrome, myopathy, LGMD, DCM, CCD, asymptomatic | Shackleton et al. (2000), Hegele et al. (2000), Speckman et al. (2000), Vigouroux et al. (2000), Vantyghem et al. (2004), Vantyghem et al. (2007), Béréziat et al. (2011), Panikkath et al. (2016), Akinci et al. (2017) | ++ |
| R527H | Heterozygous | MAD, myopathy, asymptomatic | Novelli et al. (2002), Simha et al. (2003), Shen et al. (2003), Lombardi et al. (2007) | +/− |
| Homozygous | MAD | |||
| A529V | Heterozygous | diabetes, asymptomatic | Garg et al. (2005), Ozer et al. (2016) | + |
| Homozygous | MAD | |||
| K542N | Heterozygous | asymptomatic | Plasilova et al. (2004) | +/− |
| Homozygous | progeroid syndrome |
| Mutation . | Mutation status . | Clinical features . | References . | Affinity to BAF (Samson et al., 2018) . |
|---|---|---|---|---|
| Q432X | Heterozygous | DCM, CCD, asymptomatic | Møller et al. (2009) | ND |
| R435C | Heterozygous | DCM, CCD, asymptomatic | Vytopil et al. (2003), Madej-Pilarczyk et al. (2009) | − |
| Homozygous | progeroid syndrome, myopathy, RD | |||
| R453W | Heterozygous | EDMD, LGMD, CCD, AF, asymptomatic | Bonne et al. (1999), Bonne et al. (2000), di Barletta et al. (2000), Brown et al. (2001), Colomer et al. (2002), Vytopil et al. (2003), Muchir et al. (2004), Golzio et al. (2007), Mitsuhashi et al. (2010) | ++ |
| R471C | Heterozygous | progeroid syndrome, HCM, myopathy, DCM, CCD, asymptomatic | Cao and Heqele (2003), Zirn et al. (2008), Rudbeck-Resdal et al. (2019), Rupp et al. (2019) | + |
| Homozygous | MAD, EDMD | |||
| R482W | Heterozygous | FPLD, diabetes, IR, GI, dyslipidemia, NASH, PHA, euthyroid goiter, polycystic ovaries, retinopathy, extrapyramidal syndrome, myopathy, LGMD, DCM, CCD, asymptomatic | Shackleton et al. (2000), Hegele et al. (2000), Speckman et al. (2000), Vigouroux et al. (2000), Vantyghem et al. (2004), Vantyghem et al. (2007), Béréziat et al. (2011), Panikkath et al. (2016), Akinci et al. (2017) | ++ |
| R527H | Heterozygous | MAD, myopathy, asymptomatic | Novelli et al. (2002), Simha et al. (2003), Shen et al. (2003), Lombardi et al. (2007) | +/− |
| Homozygous | MAD | |||
| A529V | Heterozygous | diabetes, asymptomatic | Garg et al. (2005), Ozer et al. (2016) | + |
| Homozygous | MAD | |||
| K542N | Heterozygous | asymptomatic | Plasilova et al. (2004) | +/− |
| Homozygous | progeroid syndrome |
See the 3D structure in Fig. 5 D for the mutated amino acids shown in table. ++, No defects on in vitro binding affinity to BAF; +, Weak binding affinity to BAF; +/−, No measureable affinity; −, No detected binding. All accumulation kinetics are shown in Fig. 5 E and images are in Fig. S4 A. DCM, dilated cardiomyopathy; CCD, cardiac conduction disturbance; RD, restrictive dermopathy; EDMD, Emery-Dreifuss muscular dystrophy; LGMD, limb-girdle muscular dystrophy; AF, atrial fibrillation; HCM, hypertrophic cardiomyopathy; MAD, mandibuloacral dysplasia; FPLD, familial partial lipodystrophy; IR, severe insulin resistance; GI, glucose intolerance; NASH, nonalcoholic steatohepatitis; PHA, primary hyperaldosteronism.