Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Table 6 Carrier, SMN1 copy number 2 carrier and disease frequencies per ethnicity

	Adjusted carrier and disease frequencies
	1 SMN1 copy carriers		2 SMN1 copies carriers		Disease Frequency
Ethnicity	Frequency	95% CI	Frequency	95% CI	Frequency	95% CI
Asian	0.022	0.021–0.023	0.0014	0.0012–0.0015	1.3E-04	1.2E-04-1.4E-04
Asian Indian^a	0.020	0.012–0.030	0.0021	0.0014–0.0030	1.0E-04	4.0E-05-2.4E-04
Black (Sub-Saharan ancestry)	0.014	0.011–0.018	0.0042	0.0034–0.0052	5.3E-05	3.4E-05-8.1E-05
Caucasian	0.022	0.021–0.024	0.0013	0.0011–0.0014	1.3E-04	1.1E-04-1.5E-04
Hispanic	0.014	0.011–0.017	0.0015	0.0013–0.0018	5.0E-05	3.5E-05-7.0E-05
Jewish	0.020	0.018–0.022	0.0016	0.0014–0.0018	1.0E-04	8.3E-05-1.2E-04

Median and 95% posterior intervals of carrier, copy number 2 carriers and disease frequencies. Frequencies calculated based on allele frequencies, small mutation and de novo mutation frequencies (calculations described in Additional File 1)
CI confidence interval
^a) Based on results of only one study

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