Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).
case_report · Level V
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- Record sourced from PubMed, PMID 29269196.
- Also identified by DOI 10.1016/j.jpeds.2017.11.011.
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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.
Medical subject headings
- DNA Helicases
- Ectodermal Dysplasia
- Nails, Malformed
- Skin Diseases, Genetic