Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

JAMA Dermatol. 2019 Feb 1;155(2):257-259. doi: 10.1001/jamadermatol.2018.4665.

Authors

Alexandros Onoufriadis¹, Arti Nanda², Adam Sheriff¹, Kenji Tomita¹, Nesrin S Gomaa¹, Michael A Simpson³, John A McGrath¹

Affiliations

¹ St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, England.
² As'ad Al-Hamad Dermatology Center, Kuwait.
³ Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, Guy's Hospital, London SE1 9RT, England.

PMID: 30586144
DOI: 10.1001/jamadermatol.2018.4665

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Consanguinity*
Cutis Laxa / congenital*
Cutis Laxa / diagnosis
Follow-Up Studies
Genes, Recessive
Genetic Counseling
Humans
Infant
Male
Mutation
Nephrotic Syndrome / diagnosis
Nephrotic Syndrome / genetics*
Pedigree
Pyrroline Carboxylate Reductases / genetics*
delta-1-Pyrroline-5-Carboxylate Reductase

Substances

Pyrroline Carboxylate Reductases

Supplementary concepts

Cutis laxa, recessive