How to cite this article: Madej-Pilarczyk A, Rosińska-Borkowska D, Rękawek J, Marchel M, Szaluś E, Jabłońska S, Hausmanowa-Petrusewicz I. 2009. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. Am J Med Genet Part A 149A:2387–2392.
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation†
Article first published online: 19 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2387–2392, November 2009
How to Cite
Madej-Pilarczyk, A., Rosińska-Borkowska, D., Rękawek, J., Marchel, M., Szaluś, E., Jabłońska, S. and Hausmanowa-Petrusewicz, I. (2009), Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. Am. J. Med. Genet., 149A: 2387–2392. doi: 10.1002/ajmg.a.33018
- Issue published online: 28 OCT 2009
- Article first published online: 19 OCT 2009
- Manuscript Accepted: 26 MAY 2009
- Manuscript Received: 18 APR 2008
- Polish Committee for Scientific Research. Grant Number: 2P05B10629
- lamin A/C;
- Hutchinson–Gilford progeria;
- progeroid syndrome
Hutchinson–Gilford progeria is a rare genetic disorder resulting from mutations in the LMNA gene encoding lamin A/C. In addition to the classical phenotype usually caused by the 1824C>T mutation of LMNA, a number of atypical progeroid syndromes have been described. They have some distinct features, such as skeletal deformities or scleroderma-like skin changes. The underlying defect is usually a homozygous mutation of LMNA, or a combined defect of LMNA and another gene, for example, ZMPSTE-24. We present a 2-year-old girl born to consanguineous parents affected by progeroid syndrome with scleroderma-like skin changes. Genetic analysis revealed the homozygous LMNA mutation 1303C>T (R435C). The same heterozygous mutation was found in the patient's parents and 11 other family members. The progeroid syndrome in our patient shares the signs of two laminopathies: progeria and restrictive dermatopathy. Two other children in the family died at the age of 2 due to a disease similar to that in the proposita. On the basis of the family pedigree we presume that these children probably had the same homozygous LMNA mutation. Scleroderma-like skin changes in infants, associated with growth retardation and dysmorphic features, suggest premature aging syndrome, requiring genetic testing and counseling of asymptomatic carriers of LMNA mutations. © 2009 Wiley-Liss, Inc.