Fig. 5.

Structure of the putative l-2-hydroxyglutarate dehydrogenase gene (A) and cosegregation of mutations in this gene with l-2-hydroxyglutaric aciduria in three consanguineous families (B–D). (A) The polymorphic markers used to study the L2HGDH locus in families 1 and 2. (B–D) Alleles of these polymorphic markers and of the L2HGDH gene are indicated below each investigated individual in the families. In family 1 (B), the Δ allele corresponds to the removal of exon 9. In families 2 (C) and 3 (D), the one-letter code is used to designate either Lys (K) or Glu (E) at position 81 and Glu or Asp (D) at position 176. In the large, 11-child-kindred family, the first and last affected children had healthy children (data not shown).