Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1712-1715

  Arboleda, Gonzalo ^a   Morales, Luis Carlos ^a   Quintero, Luis ^a   Arboleda, Humberto ^a  

^a UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

Author keywords

Autosomal recessive; Neonatal progeria; Wiedemann Rautenstrauch syndrome

Indexed keywords

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYCEPHALY; CASE REPORT; CRANIOFACIAL MALFORMATION; EXOPHTHALMOS; FEMALE; GINGIVA HYPERTROPHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTELORISM; MALE; MANDIBLE HYPOPLASIA; NEWBORN; PREMATURE AGING; PRIORITY JOURNAL; SUBCUTANEOUS FAT; WIEDEMANN RAUTENSTRAUCH SYNDROME;

FATAL OUTCOME; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; PHENOTYPE; PROGERIA; SIBLINGS;

EID: 79959515999     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34019     Document Type: Article

References (15)

1. Arboleda H, Arboleda G. 2005. Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient "G." Birth Defects Res A Clin Mol Teratol 73: 562-568.
2. Arboleda H, Quintero L, Yunis E. 1997. Wiedemann-Rautenstrauch neonatal progeroid syndrome: Report of three new patients. J Med Genet 34: 433-437.
3. Arboleda G, Ramirez N, Arboleda H. 2007. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): A model for the study of human aging? Exp Gerontol 42: 939-943.
4. Brandt A, Papagiannouli F, Wagner N, Wilsch-Brauninger M, Braun M, Furlong EE, Loserth S, Wenzl C, Pilot F, Vogt N, Lecuit T, Krohne G, Grosshans J. 2006. Developmental control of nuclear size and shape by Kugelkern and Kurzkern. Curr Biol 16: 543-552.
5. Brandt A, Krohne G, Grosshans J. 2008. The farnesylated nuclear proteins Kugelkern and Lamin B promote aging-like phenotypes in Drosophila flies. Aging Cell 7: 541-551.
6. Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM. 2009. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord 19: 279-287.
7. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van BH, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. 2009. The SLC29A3 gene is mutated in pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 18: 2257-2265.
8. Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. 2009. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet 84: 594-604.
9. Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. 2009. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 19: 264-269.
10. Morales LC, Arboleda G, Rodriguez Y, Forero DA, Ramirez N, Yunis JJ, Arboleda H. 2009. Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. Am J Med Genet Part A 149A: 2695-2699.
11. Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB. 2009. Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet 84: 519-523.
12. Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC. 2000. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review. Am J Med Genet 90: 131-140.
13. Rautenstrauch T, Snigula F. 1977. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr 124: 101-111.
14. Rautenstrauch T, Snigula F, Wiedemann HR. 1994. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study. Klin Padiatr 206: 440-443.
15. Wiedemann HR. 1979. An unidentified neonatal progeroid syndrome: Follow-up report. Eur J Pediatr 130: 65-70.