Germline mosaicism in Cornelia de Lange syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1481-1485

  Slavin, Thomas P ^a   Lazebnik, Noam ^a   Clark, Dinah M ^b   Vengoechea, Jaime ^a   Cohen, Leslie ^a   Kaur, Maninder ^b   Konczal, Laura ^a   Crowe, Carol A ^c   Corteville, Jane E ^a   Nowaczyk, Malgorzata J ^d   Byrne, Janice L ^e   Jackson, Laird G ^f   Krantz, Ian D ^b,g  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c METROHEALTH MEDICAL CENTER   (United States)

^d HAMILTON HEALTH SCIENCES   (Canada)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cornelia de Lange syndrome; Genetic counseling; Germ cell; Germline mosaicism; Mosaicism

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DE LANGE SYNDROME; EXON; FACIES; FEMALE; FETUS ECHOGRAPHY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC DATABASE; GENETIC RISK; GERMLINE MOSAICISM; GROWTH RETARDATION; HUMAN; LIMB REDUCTION DEFECT; MALE; MICROCEPHALY; MOLECULAR MODEL; MOSAICISM; MUTATIONAL ANALYSIS; NIPBL GENE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; RISK ASSESSMENT; RISK FACTOR; SMC1A GENE;

DE LANGE SYNDROME; EXONS; FAMILY; FEMALE; HUMANS; MALE; MOSAICISM; MUTATION; PEDIGREE; PROTEINS;

EID: 84861225695     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35381     Document Type: Article

References (19)

1. Baujat G, Cormier-Daire V. 2007. Sotos Syndrome. Orphanet J Rare Dis 7: 36.
2. Beratis NG, Hsu LY, Hirschhorn K. 1971. Familial de Lange syndrome. Report of three cases in a sibship. Clin Genet 2: 170- 176.
3. Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. 1988. Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42: 237- 248.
4. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80: 485- 494.
5. Delhanty JD. 2011. Inherited aneuploidy: Germline mosaicism. Cytogenet Genome Res 133: 136- 140.
6. Fryns JP, Dereymaeker AM, Hoefnagels M, D'Hondt F, Mertens G, van den Berghe H. 1987. The Brachmann-de Lange syndrome in two siblings of normal parents. Clin Genet 31: 413- 415.
7. Garder and Sutherland. 2004. Chromosome abnormalities and genetic counseling. New York: Oxford University Press. 44 pp.
8. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75: 610- 623.
9. Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. 2009. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet 75: 465- 472.
10. Jackson L, Kline AD, Barr MA, Koch S. 1993. De Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47: 940- 946.
11. Krajewska-Walasek M, Chrzanowska K, Tylki-Szymanska A, Bialecka M. 1995. A further report of Brachmann-de Lange syndrome in two sibs with normal parents. Clin Genet 47: 324- 327.
12. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster nipped-B. Nat Genet 36: 631- 635.
13. Lieber E, Glaser JH, Jhaveri R. 1973. Brachmann-de Lange syndrome. Report of two cases in a sibship. Am J Dis Child 125: 717- 718.
14. Mettler G, Fraser FC. 2000. Recurrence risk for sibs of children with "sporadic" achondroplasia. Am J Med Genet 90: 250- 251.
15. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38: 528- 530.
16. Naguib KK, Teebi AS, Al-Awadi SA, Marafie MJ. 1987. Brachmann-de Lange syndrome in sibs. J Med Genet 24: 627- 629.
17. Roach ES, Sparagana SP. 2007. Diagnosis of tuberous sclerosis complex. J Child Neurol 19: 643- 649.
18. Strachan T, Read AP. 1999. Human molecular genetics 2nd edition. New York: Wiley-Liss. pp 9.1- 9.5.5. Available at: Last accessed 2/3/2012.
19. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36: 636- 641.