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

Xiao Chang; Dong Li; Lifeng Tian; Yichuan Liu; Michael March; Tiancheng Wang; Cuiping Hou; Renata Pellegrino; Richard Levy; Melinda Jen; Raymond Soccio; Patrick Sleiman; Hakon Hakonarson; Leslie Castelo-Soccio

doi:10.1016/j.jpeds.2017.11.011

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.

Authors

Affiliations

¹ Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
² Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
³ Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
⁴ Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.
⁵ Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address: [email protected].

PMID: 29269196
DOI: 10.1016/j.jpeds.2017.11.011

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

Substances

SMARCAD1 protein, human
DNA Helicases

Supplementary concepts

Basan syndrome
Fingerprints, Absence of