Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2816-2820

  Sanford, E F ^a   Bermudez Wagner, K ^a   Jeng, L J B ^a   Rauen, K A ^a   Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

17p11.2; Congenital diaphragmatic hernia; Contiguous gene deletion; RAI1 gene; Smith magenis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; ENDOCARDIAL CUSHION DEFECT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; HERNIOPLASTY; HOMOZYGOTE; HUMAN; INFANT; KARYOTYPING; LOSS OF FUNCTION MUTATION; MITRAL VALVE DISEASE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINOIC ACID INDUCED PROTEIN 1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; TRISOMY 21; UBIQUITIN B GENE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HERNIA, DIAPHRAGMATIC; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MITRAL VALVE; PHYSICAL EXAMINATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS; UBIQUITIN;

EID: 80054916311     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34247     Document Type: Article

References (16)

1. Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, De Leersnyder H, De Blois M-C, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert J-P. 2007. Genotype phenotype correlation of 30 patients with Smith-Magenis Syndrome (SMS) using comparative genome hybridisation array: Cleft palate in SMS is associated with larger deletions. J Med Genet 44:537-540.
2. Beurskens LWJE, Tibboel D, Lindemans J, Duvekot JJ, Cohen-Overbeek TE, Veenma DCM, de Klein A, Greer JJ, Steegers-Theunissen RPM. 2010. Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics 126:712-720.
3. Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. 2004. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 115:515-524.
4. Elsea SH, Girirajan S. 2008. Smith-Magenis syndrome. Eur J Hum Genet 16:412-421.
5. Goumy C, Gouas L, Marceau G, Coste K, Veronese L, Gallot D, Sapin V, Vago P, Tchirkov A. 2010. Retinoid pathway and congenital diaphragmatic hernia: Hypothesis from the analysis of chromosomal abnormalities. Fetal Diagn Ther 28:129-139.
6. Gropman AL, Elsea S, Duncan WC Jr, Smith ACM. 2007. New developments in Smith-Magenis Syndrome (del17p11.2). Curr Opin Neurol 20:125-134.
7. Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. 2007. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 80:825-845.
8. Jay PY, Bielinska M, Erlich JM, Mannisto S, Pu WT, Heikinheimo M, Wilson DB. 2007. Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 301:602-614.
9. Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A. 2007. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature. Am J Med Genet Part A 143A:2204-2212.
10. Roos-Mattjus P, Sistonen L. 2004. The ubiquitin-proteasome pathway. Ann Med 36:285-295.
11. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. 2005. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 42:730-736.
12. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. 2002. Hypercholesterolemia in children with Smith-Magenis syndrome: del(17)(p11.2p11.2). Genet Med 4:118-125.
13. Smith ACM, Boyd K, Elsea SH, Finucane BM, Haas-Givler B, Gropman A, Johnson KP, Lupski JR, Magenis E, Potocki L, Solomon B. 2010. Smith-Magenis Syndrome. 1993-2001, updated 2010 Jan 7. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
14. Truong HT, Dudding T, Blanchard CL, Elsea SH. 2010. Frameshift mutation hotspot identified in Smith-Magenis syndrome: Case report and review of literature. BMC Med Genet 11:142-146.
15. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. 2009. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet Part A 149A:1661-1677.
16. You LR, Takamoto N, Yu CT, Tanaka T, Kodama T, Demayo FJ, Tsai SY, Tsai MJ. 2005. Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. Proc Natl Acad Sci USA 102:16351-16356.