Fig. 2.

Identification of two novel mutations of the SLC45A2 gene. a Direct sequencing revealed a heterozygous missense mutation (c.1226G > A, p.Gly409Asp) in the sixth exon and b a heterozygous nonsense mutation (c.1459C > T, p.Gln437*) in the seventh exon of the gene. Both mutations were present in both affected patients. Unrelated controls (n = 30) carried the wild type sequence. c The identified mutations are located within the transmembrane domains of the MATP protein. d The identified missense mutation is situated within an evolutionary conserved region