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
Joint Authors
Sethi, Suman
Mehta, Sudhir
Makkar, Vikas
Kaur, Simran
Sohal, P. M.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 30, Issue 4 (31 Aug. 2019), pp.969-973, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2019-08-31
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Topics
- Mutation
- Enzymes
- Diagnosis
- Molecular aspects
- Anatomical pathology
- Tyrosine
- Heterozygosity
- Alport’s syndrome
Abstract EN
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.
American Psychological Association (APA)
Sethi, Suman& Mehta, Sudhir& Makkar, Vikas& Kaur, Simran& Sohal, P. M.. 2019. 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. Saudi Journal of Kidney Diseases and Transplantation،Vol. 30, no. 4, pp.969-973.
https://search.emarefa.net/detail/BIM-893804
Modern Language Association (MLA)
Sethi, Suman…[et al.]. 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. Saudi Journal of Kidney Diseases and Transplantation Vol. 30, no. 4 (Jul. / Aug. 2019), pp.969-973.
https://search.emarefa.net/detail/BIM-893804
American Medical Association (AMA)
Sethi, Suman& Mehta, Sudhir& Makkar, Vikas& Kaur, Simran& Sohal, P. M.. 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. Saudi Journal of Kidney Diseases and Transplantation. 2019. Vol. 30, no. 4, pp.969-973.
https://search.emarefa.net/detail/BIM-893804
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 973
Record ID
BIM-893804