Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2861-2864

  Girisha, Katta M ^a   Lewis, Leslie E ^a   Phadke, Shubha R ^b   Kutsche, Kerstin ^c  

^a KASTURBA MEDICAL COLLEGE   (India)

^b SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Costello syndrome; Cutis laxa; HRAS; Mosaicism; Mutation

Indexed keywords

ARTICLE; BIRTH WEIGHT; CASE REPORT; CHEEK; CONGENITAL SKIN DISEASE; COSTELLO SYNDROME; CUTIS LAXA; DISEASE SEVERITY; EAR MALFORMATION; ECHOCARDIOGRAPHY; EPICANTHUS; FACIES; FAILURE TO THRIVE; GENETIC ANALYSIS; GROWTH RETARDATION; HEART VENTRICLE HYPERTROPHY; HETEROZYGOSITY; HUMAN; LYMPHOCYTE; MALE; MISSENSE MUTATION; MOSAICISM; MUSCLE HYPERTONIA; NAIL HYPOPLASIA; NEWBORN; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHILTRUM; PRIORITY JOURNAL; PTOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUBCUTANEOUS FAT; UMBILICAL HERNIA; WEIGHT GAIN; WEIGHT REDUCTION; WRINKLE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; COSTELLO SYNDROME; CUTIS LAXA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; PREGNANCY; PROTO-ONCOGENE PROTEINS P21(RAS);

EID: 78049298778     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33687     Document Type: Article

References (13)

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. Boente MC, Carrero-Valenzuela RD, Frontini MV, Asial RA. 2001. Costello syndrome: Report of a new case with choanal atresia and fatal outcome. Eur J Dermatol 11: 453-457.
3. Davies SJ, Hughes HE. 1994a. Costello syndrome: Natural history and differential diagnosis of cutis laxa. J Med Genet 31: 486-489.
4. Davies SJ, Hughes HE. 1994b. Cutis laxa: A feature of Costello syndrome. J Med Genet 31: 85.
5. Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. 2006. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet Part A 140A: 2163-2169.
6. Harmsen MB, Azzarello-Burri S, Garcia Gonzalez MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K. 2009. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: No evidence of genetic overlap. Eur J Hum Genet 17: 1207-1215.
7. Hennekam RC. 2003. Costello syndrome: An overview. Am J Med Genet Part C 117C: 42-48.
8. Kehrer-Sawatzki H, Cooper DN. 2008. Mosaicism in sporadic neurofibromatosis type 1: Variations on a theme common to other hereditary cancer syndromes? J Med Genet 45: 622-631.
9. Patton MA, Baraitser M. 1993. Cutis laxa and the Costello syndrome. J Med Genet 30: 622.
10. Rauen KA. 2007. HRAS and the Costello syndrome. Clin Genet 71: 101-108.
11. Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW. 2009. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet Part A 149A: 315-321.
12. Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19: 230-236.
13. Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA. 2009. Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet Part A 149A: 2723-2730.