Progeria classification: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 17: | Line 17: | ||
|Group 1 | |Group 1 | ||
|Classic Hutchinson-Gilford progeria syndrome | |Classic Hutchinson-Gilford progeria syndrome | ||
| | |Due to nucleotide substitution in the lamin A/C gene ''LMNA''(c.1824C>T [p.Gly608Gly]) | ||
|- | |- | ||
|Group 2 | |Group 2 | ||
|Atypical Hutchinson-Gilford progeria syndrome | |Atypical Hutchinson-Gilford progeria syndrome | ||
| | |Due to variety of pathogenic variants in intron 11 of the ''LMNA'' gene | ||
|} | |} | ||
Revision as of 15:04, 5 July 2019
|
Progeria Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Progeria classification On the Web |
|
American Roentgen Ray Society Images of Progeria classification |
|
Risk calculators and risk factors for Progeria classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Progeria may be classified according to genotype into two groups:Classic progeria and atypical progeria.
Classification
Progeria may be classified according to genotype into two groups:
| Classification of Hutchinson-Gilford Progeria Syndrome | Cause | |
| Group 1 | Classic Hutchinson-Gilford progeria syndrome | Due to nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly]) |
| Group 2 | Atypical Hutchinson-Gilford progeria syndrome | Due to variety of pathogenic variants in intron 11 of the LMNA gene |