FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

Table 1 Prevalence data in general population.

Reference	Location	Number tested	Gender	Genotype	CGG range	Prevalence
[42]	Canada	10,624	Female	Pre	55-101	1/259
[81]	USA	3,345	Pregnant/non-pregnant women	Gray	40-49	1/52 (no fhx)
						1/107 (fhx)
					50-59	0/474 (no fhx)
						0/214 (fhx)
				Pre	60-200	1/158 (no fhx)
						0/214 (fhx)
				Full	>200	0/474 (no fhx)
						0/214 (fhx)
[25]	UK, 11-16 years	347		Fragile X		1/2,720
[35]	Finland	1,738	Pregnant women	Pre	60-200	1/246
				Full	>200	0/1,477
[40]	Israel	10,587	Female	Gray/Pre	51-200	1/77
[82]	Israel	9,660	Pregnant/non-pregnant women	Pre	50-199	1/114
				Full	>200	0/9,660
[26]	Israel	9,459	Pregnant/non-pregnant women	Pre	52-199	1/73
				Full	>200	1/2,365
[83]	UK	3,738	Male	FRAXA full	≥200	1/187
[84]	Finland	239	Pregnant women	Pre	61-200	1/220
				Full	>200	0/220
[41]	Israel	14,334	Pregnant/non-pregnant women	Pre	55-200	1/113
				Full	>200	1/4,778
[29]	Canada	10,572	Male	Pre	55 to <230	1/813
				Full	>230	1/155
[24]	USA	2,250	Male	Full	≥200	1/353
				Intermediate	41-60	1/27
		1,089	Female	Pre	61-199	1/531
				Intermediate	41-60	1/19
[85]	Taiwan	1,002	Pregnant women	Gray	40-52	1/46
				Pre	>52	0/1,002
[33]	USA	29,103	Pregnant women	Gray	45-54	1/143
				Pre	55-200	1/382
				Full	>200	0/2,292
[39]	Israel	40,079	Pregnant/non-pregnant women	Pre	55-199	1/158 (no fhx)
						1/150 (fhx*)
				Full	>200	1/36,483 (no fhx)
						1/899 (fhx)
[86]	Australia	338	Non-pregnant women	Gray	45-54	1/22
				Pre	55-200	1/65
				Full	>200	0/65
[34]	Canada	21,411	Female	Gray	45-54	1/86
				Pre	55-200	1/241
[38]	Japanese	576	Female	Intermediate	40-50	1/324
		370	Male	Intermediate	40-50	1/103
[32]	USA	11,759	Female from cystic fibrosis screening	Pre	55-200	1/245
		2,011	Ashkenazi Jewish women	Pre	55-200	1/134
[74]	USA	3,273	Male	Gray	45-54	1/42
				Pre	55-200	1/468
		3,474	Female	Gray	45-54	1/35
				Pre	55-200	1/151

fhx, family history of FXS.
* Family history of individuals with intellectual disability, developmental problems, or autism in extended family but without relatives who were fragile X carriers.

ISSN: 1756-994X