Disorders

PYCR1-Related Cutis Laxa

Synonym(s): ARCL2B, Cutis Laxa with Progeroid Features, Cutis Laxa, Autosomal Recessive, Type 2B, Cutis Laxa, Autosomal Recessive, Type IIB

OMIM

Gene	Locus	Protein
PYCR1	17	Pyrroline-5-carboxylate reductase 1

Laboratory	Test Method	Prenatal	Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.