Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis

Br J Dermatol. 2017 Apr;176(4):1077-1078. doi: 10.1111/bjd.14873. Epub 2017 Feb 5.

Authors

R K Jobling¹, I Lara-Corrales², M-C Hsiao³, A Shugar¹, S Hedges¹, L Messiaen³, P Kannu¹

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
² Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
³ Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.

PMID: 27423141
DOI: 10.1111/bjd.14873

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adaptor Proteins, Signal Transducing
Adolescent
Cafe-au-Lait Spots / diagnosis
Cafe-au-Lait Spots / genetics*
Diagnosis, Differential
Heterozygote
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Male
Membrane Proteins / genetics*
Mosaicism*
Neurofibromatosis 1 / diagnosis
Neurofibromatosis 1 / genetics
Sequence Deletion / genetics*

Substances

Adaptor Proteins, Signal Transducing
Intracellular Signaling Peptides and Proteins
Membrane Proteins
SPRED1 protein, human

Supplementary concepts

Legius syndrome