Novel CFTR mutations in black cystic fibrosis patients.
Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central Africa. We report here four novel mutations, i.e., IVS2 + 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17-18), and IVS22 + IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.
Feuillet-Fieux
M N
MN
Department of Genetic Biochemistry, Hopital Necker-Enfants Malades, Paris Cedex, France.
Ferrec
M
M
Gigarel
N
N
Thuillier
L
L
Sermet
I
I
Steffann
J
J
Lenoir
G
G
Bonnefont
J P
JP
D044383:Black People / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion
C505032:CFTR protein, human; D018389:Codon, Nonsense; D022821:RNA Splice Sites; D019005:Cystic Fibrosis Transmembrane Conductance Regulator