A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
BACKGROUND
Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA).


METHODS
A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used.


RESULTS
A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 (D159Y). This mutation was also identified in the mother of the two probands. Mutations in all three individuals were confirmed by DNA sequencing analysis.


CONCLUSIONS
We identified a missense mutation in exon 5 of the ALAS2 gene in two brothers of a consanguineous marriage, who were clinically pyridoxine-responsive.
Hurford
Matthew T
MT
Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA.
Marshall-Taylor
Cristina
C
Vicki
Sandy L
SL
Zhou
Jackie Z
JZ
Silverman
Lawrence M
LM
Rezuke
William N
WN
Altman
Arnold
A
Tsongalis
Gregory J
GJ
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000756:Anemia, Sideroblastic / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000473:pathology; D005091:Exons / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome / Q000235:genetics*
D007527:Isoenzymes; D000624:5-Aminolevulinate Synthetase