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Table 2 Correlation of genetic epidemiology of the ETFDH C.250G > A mutation and Southern Min Population

From: Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

Regions and CountriesSouthern Min (%)*SouthernMin (millions)No. ETFDH MADD casesc.250G > A mutation (%)*c.250G > A alleles (No.)Homozygous casesHeterozygous cases
HenanOrigin917%303
Chaoshan1~ 90%~ 14 m2100%420
Fujian1,3~ 60%~ 20 m5881%944014
Taiwan2,3~ 70%~ 15.6 m1971%27107
Hainan1,3~ 59%~ 5 m150%101
Singapore2,3~ 37%~ 1.86 m150%101
Guangzhou area1,3~ 6%~ 3 m642%513
Hong Kong2,3~ 6.7%~ 0.5 m317%101
Thailand2,3~ 9%~ 5 m350%303
Shanghai areaa 1,3~ 1%~ 2 m3426%1866
Shandonga< 1%594%505
Beijinga< 1%572%202
Other provinces< 1%242%101
Japan< 1%160%000
Korea< 1%20%000
Other Countries1,2,3< 1%~ 20 m870.6%101
Total  381 1695948
  1. *There is significant correlation of the estimated percentage of Southern Min population and the percentage of c.250G > A in total ETFDH mutation cases (Spearman correlation coefficient, p < 0.01)
  2. c.250G > A mutation (%): The allele frequency of the c.250G > A ETFDH mutation among all the reported cases in the regions/countries, assumed two ETFDH mutation alleles in each case
  3. aMajor Neuromuscular centres in China
  4. Guangzhou area: including Guangzhou and surrounding cities
  5. Shanghai area: including Shanghai and surrounding cities
  6. m: millions
  7. Estimated net number and percentage of Southern Min population in the regions calculated based on local population reports from Internet
  8. Data recourse: 1 Baidu; 2 Ethnologue; 3 Wikipedia,