Send to

Choose Destination
Saudi J Kidney Dis Transpl. 2019 Jul-Aug;30(4):969-973. doi: 10.4103/1319-2442.265476.

A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.

Author information

Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.


Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene.

Free full text

Supplemental Content

Full text links

Icon for Medknow Publications and Media Pvt Ltd
Loading ...
Support Center