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

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

Author information

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: castelosocciol@email.chop.edu.

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

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