Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 218-224

  Doelken, Sandra C ^a   Seeger, Karl ^a   Hundsdoerfer, Patrick ^a   Weber Ferro, Wencke ^b   Klopocki, Eva ^a,c   Graul Neumann, Luitgard ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

15q25.2; Developmental delay; Intellectual disability; Microdeletion

Indexed keywords

VALPROIC ACID;

ADOLESCENT; ARTICLE; BLOOD TRANSFUSION; BYPASS SURGERY; CASE REPORT; CHILD; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; COPY NUMBER VARIATION; DIARRHEA; DISTAL 15Q25.2 MICRODELETION; DYSTROPHY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; ESOPHAGUS VARICES; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOTYPE; GESTATIONAL AGE; GROWTH RETARDATION; HUMAN; INGUINAL HERNIA; IRON DEFICIENCY ANEMIA; LANGUAGE DISABILITY; MALE; MECONIUM ILEUS; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PLAGIOCEPHALY; PORTAL VEIN THROMBOSIS; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RECURRENT INFECTION; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ANEMIA, DIAMOND-BLACKFAN; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; GENOTYPE; GERMANY; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROARRAY ANALYSIS; PHENOTYPE;

EID: 84871687688     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35695     Document Type: Article

References (10)

1. Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. 2011. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet 79:363-370.
2. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. 2008. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40:1466-1471.
3. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43:838-846.
4. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148-161.
5. Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. 2011. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88:70-75.
6. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. 2007. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057-1069.
7. Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. 2007. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15:1105-1114.
8. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM. 2008. Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference. Br J Haematol 142:859-876.
9. Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. 2007. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81:768-779.
10. Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. 2010. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia. J Med Genet 47:777-781.