Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 469-472

  Gardeitchik, T ^a   de Leeuw, N ^a   Nijtmans, L ^a   Jira, P ^b   Kozicz, T ^c   Czako, M ^d   van de Burgt, I ^a   Morava, E ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JEROEN BOSCH HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d UNIVERSITY OF PÉCS   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; TRANSFERRIN;

BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COSTELLO SYNDROME; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELECTRON MICROSCOPY; FEMALE; GENOTYPE; HAPLOTYPE; HUMAN; KARYOTYPE 46,XX; LETTER; PATERNITY; POLYMERASE CHAIN REACTION; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN EXAMINATION;

ABNORMALITIES, MULTIPLE; BECKWITH-WIEDEMANN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 11; CLEFT LIP; CLEFT PALATE; COSTELLO SYNDROME; CUTIS LAXA; ELASTIN; FEMALE; HUMANS; HYDROCEPHALUS; KARYOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS);

EID: 84856211858     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34410     Document Type: Letter

References (16)

1. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. 2005. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37:1038-1040.
2. Derks NM, Roubos EW, Kozicz T. 2007. Presence of estrogen receptor beta in urocortin 1-neurons in the mouse non-preganglionic Edinger-Westphal nucleus. Gen Comp Endocrinol 153:228-234.
3. Drut RM, Drut R. 1996. Nonimmune fetal hydrops and placentomegaly: Diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH. Am J Med Genet 62:145-149.
4. Falk RE, Carrel RE, Valente M, Crandall BF, Sparkes RS. 1973. Partial trisomy of chromosome 11: A case report. Am J Ment Defic 77:383-388.
5. Girisha KM, Lewis LE, Phadke SR, Kutsche K. 2010. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Am J Med Genet Part A 152A:2861-2864.
6. Hennekam RC. 2003. Costello syndrome: An overview. Am J Med Genet Part C Semin Med Genet 117C:42-48.
7. Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. 2009. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet 18:2149-2165.
8. Morava E, Wopereis S, Coucke P, Wevers RA. 2005. Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet 13:414-421.
9. Morava E, Guillard M, Lefeber DJ, Wevers RA. 2009. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 17:1099-1110.
10. Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H. 1986. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter.: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jinrui Idengaku Zasshi 31:365-372.
11. Rauen KA. 2007. HRAS and the Costello syndrome. Clin Genet 71:101-108.
12. Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR. 2008. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. Am J Med Genet Part A 146A:1042-1048.
13. Slavotinek A, Gaunt L, Donnai D. 1997. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet 34:819-826.
14. Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R. 1984. Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum Genet 67:219-221.
15. Urban Z, Gao J, Pope FM, Davis EC. 2005. Autosomal dominant cutis laxa with severe lung disease: Synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 124:1193-1199.
16. Weksberg R, Shuman C, Beckwith JB. 2010. Beckwith-Wiedemann syndrome. Eur J Hum Genet 18:8-14.