Table 6.

Autosomal Recessive Spondylocostal Dysostosis: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
DLL3 Exon 8 is GC rich. PCR additives may be required.
HES7 Exon 4 is GC rich. PCR additives may be required.
MESP2
  • Exon 1 contains a GQ poly tract consisting of 12 nucleotide repeats of type A, B, or C beginning at nucleotide 535. Repeat A: GGG CAG GGG CAA; repeat B: GGA CAG GGG CAA; repeat C: GGG CAG GGG CGC.
  • The reference sequence has an AABBC repeat. Bidirectional Sanger sequencing may be required.
1.

Genes from Table 1 in alphabetic order.

From: Spondylocostal Dysostosis, Autosomal Recessive

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