Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3170-3173

  Piard, Juliette ^a,b   Depienne, Christel ^a,c   Keren, Boris ^a   Fédirko, Estelle ^a   Trouillard, Oriane ^a   Charles, Perrine ^a   Heron, Delphine ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^c INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMAL BEHAVIOR; ABSENCE; ADOLESCENT; AORTA ARCH ANOMALY; ARM MALFORMATION; ARTERY MALFORMATION; ASPIRATION PNEUMONIA; ATAXIA; BODY FAT DISTRIBUTION; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CONSTIPATION; DIGESTIVE SYSTEM FUNCTION DISORDER; DIVERTICULOSIS; DYSPHAGIA; FACE DYSMORPHIA; FEMALE; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KOMMERELL DIVERTICULUM; LETTER; LYMPHEDEMA; MARKER GENE; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOCLONUS SEIZURE; OBESITY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; RETROESOPHAGEAL SUBCLAVIAN ARTERY; SIBLING; SLEEP DISORDER; SLOW BRAIN WAVE; SPEECH DISORDER; STEREOTYPY; TRACHEA OBSTRUCTION; UBE3A GENE;

ADOLESCENT; ANGELMAN SYNDROME; CHILD; CHILD, PRESCHOOL; EXONS; FACIES; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; INFANT; LIGASE CHAIN REACTION; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 82155162350     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34334     Document Type: Letter

References (13)

1. Beleza-Meireles A, Cerqueira R, Sousa SB, Palmeiro A, Ramos L. 2011. Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome. Eur J Med Genet, DOI: 10.1016/j.ejmg.2011.02.010.
2. Boyes L, Wallace AJ, Krajewska-Walasek M, Chrzanowska KH, Clayton-Smith J, Ramsden S. 2006. Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay. Eur J Med Genet 49: 472-480.
3. Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. 2002. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 111: 233-237.
4. Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, Romano V, Elia M. 2010. Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependant probe amplification in a patient with Angelman syndrome. Exp Mol Med 42: 842-848.
5. Clayton-Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40: 87-95.
6. Jedele K. 2007. The overlapping spectrum of Rett and Angelman syndromes: A clinical review. Semin Pediatr Neurol 14: 108-117.
7. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. 2006. Atypical cases of Angelman syndrome. Am J Med Genet Part A 140A: 2361-2364.
8. Pelc K, Boyd S, Cheron GA, Dan B. 2008a. Epilepsy in Angelman syndrome. Seizure 17: 211-221.
9. Pelc K, Cheron G, Boyd S, Dan B. 2008b. Are there distinctive sleep problems in Angelman syndrome? Sleep Med 9: 434-441.
10. Pelc K, Cheron GA, Dan B. 2008c. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat 4(3): 577-584.
11. Sandanam Tls, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. 1997. Manifestations in institutionalised adults with Angelman syndrome due to deletion. Am J Med Genet 70: 415-420.
12. Smith A, Wiles C, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent R. 1996. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33: 107-112.
13. Williams CA. 2010. The behavioral phenotype of the Angelman syndrome. Am J Med Genet Part C 154C: 432-437.