GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
GJB6 DFNA3 T5M C>T   Italian (1) Grifa 1999
      del >140kb   Ashkenazi Jewish (4) Lerer 2001*
      *found in compound hets with GJB2 (DFNB1)      
      del 342kb   Spanish (22) Castillo 2002*
      *found in compound hets with GJB2 (DFNB1)      
      del >150kb   N/A (5) Pallares-Ruiz 2002*
      *homozygous or compound het with GJB2 (DFNB1)      
             
  Hidrotic Ectodermal Dysplasia (Clouston Syndrome) G11R 31G>A   French (2), Scottish-Irish (1), African (1), Spanish (1), French Canadian (3) Lamartine 2000
    V37E 110T>A   Scottish (1) Smith 2002
    A88V 263C>T   Indian (1), Malaysian (1), Welsh (1) Lamartine 2000