Skip to main content
. 2013 Sep 5;93(3):579–586. doi: 10.1016/j.ajhg.2013.07.023

Figure 1.

Figure 1

Pedigrees and Identified Mutations

(A) Pedigrees of the three families show the seven affected individuals and female carriers of a BCAP31 mutation.

(B) Schematic representation of the human chromosome Xq28 region containing BCAP31 and flanking SLC6A8 and ABCD1. Exon numbers are provided, and arrows indicate the transcription orientation (cen, centromere; tel, telomere). UTRs are represented by open boxes, and the alternative 3′ UTR of SLC6A8 is hatched. The three mutations are indicated below the genes. The Xq28 deletion is numbered according to HGVS nomenclature: RefSeq NM_005629.3 for SLC6A8 and NM_001139441 for BCAP31.