Disorders

Witkop Syndrome

Synonym(s): Nail Dysplasia with Hypodontia, TNS, Tooth-and-Nail Syndrome

Gene	Locus	Protein
MSX1	4p16.2	Homeobox protein MSX-1

Laboratory	Test Method	Prenatal	Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
diagenos - Osnabrueck, Germany	• Mutation scanning of the entire coding region
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.