Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964) - 23/02/18
Doi : 10.1016/j.jpeds.2017.11.011
Xiao Chang, PhD 1, Dong Li, PhD 1, Lifeng Tian, PhD 1, Yichuan Liu, PhD 1, Michael March, PhD 1, Tiancheng Wang 1, Cuiping Hou, PhD 1, Renata Pellegrino 1, Richard Levy 2, Melinda Jen, MD 2, Raymond Soccio, MD, PhD 3, Patrick Sleiman, PhD 1, 4, Hakon Hakonarson, MD, PhD 1, 4, Leslie Castelo-Soccio, MD, PhD 2, * 
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 Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA
*Reprint requests: Leslie Castelo-Soccio, MD, PhD, 3401 Civic Center Blvd, Wood Center Room 3335, Dermatology, Philadelphia, PA 19104.3401 Civic Center Blvd, Wood Center Room 3335, DermatologyPhiladelphiaPA19104
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.
Le texte complet de cet article est disponible en PDF.Keywords : genodermatoses, fingerprints, whole exome sequencing
**Abbreviations : ADG, BBS, lncRNA, PCR, TSS
Plan
| The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tous droits réservés.
Vol 194
P. 248 - mars 2018 Retour au numéro
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