Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)

J Pediatr. 2018 Mar;194:248-252.e2. doi: 10.1016/j.jpeds.2017.11.011. Epub 2017 Dec 18.

Abstract

In 1964, Baird described a family with adermatoglyphia, facial milia, and skin fragility. Using whole exome sequencing, genotyping, and Sanger sequencing, we identified a 116-kb heterozygous deletion involving exons 1-9 of SMARCAD1 in descendants of this kindred. This contrasts with point mutations within exon 9 in all other reported families.

Keywords: fingerprints; genodermatoses; whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • DNA Helicases / genetics*
  • Ectodermal Dysplasia / genetics*
  • Female
  • Genotyping Techniques / methods
  • Heterozygote
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Infant, Newborn
  • Male
  • Nails, Malformed / genetics*
  • Pedigree
  • Sequence Deletion
  • Skin Diseases, Genetic / genetics*
  • Whole Exome Sequencing / methods

Substances

  • SMARCAD1 protein, human
  • DNA Helicases

Supplementary concepts

  • Basan syndrome
  • Fingerprints, Absence of