A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 265-268

  Haldeman Englert, Chad R ^a   Gai, Xiaowu ^a   Perin, Juan Carlos ^a   Ciano, Melissa ^a   Halbach, Sara S ^b   Geiger, Elizabeth A ^a   McDonald McGinn, Donna M ^a   Hakonarson, Hakon ^a   Zackai, Elaine H ^a,c   Shaikh, Tamim H ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cleft lip; Cortical blindness; Developmental delay; Microarray; Microdeletion

Indexed keywords

AGENESIS; ARTICLE; CASE REPORT; CELL FUNCTION; CELL MATURATION; CENTRAL NERVOUS SYSTEM DISEASE; CEREBRAL BLINDNESS; CHILD; CHROMOSOME 3P; CHROMOSOME DELETION; CLEFT LIP; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC FIBROSIS; DEVELOPMENTAL DISORDER; DIZYGOTIC TWINS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HYPERTELORISM; ISOELECTRIC FOCUSING; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; NERVE CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOHYDRAMNIOS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SEIZURE; SHORT STATURE; TETRASOMY;

ABNORMALITIES, MULTIPLE; ADULT; BLINDNESS, CORTICAL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; CLEFT LIP; CONGENITAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA PROBES; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; TIME FACTORS;

EID: 67650647612     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.11.005     Document Type: Article

References (15)

1. Altrock W.D., tom Dieck S., Sokolov M., Meyer A.C., Sigler A., Brakebusch C., Fässler R., Richter K., Boeckers T.M., Potschka H., Brandt C., Löscher W., Grimberg D., Dresbach T., Hempelmann A., Hassan H., Balschun D., Frey J.U., Brandstätter J.H., Garner C.C., Rosenmund C., and Gundelfinger E.D. Functional inactivation of a fraction of excitatory synapses in mice deficient for the active zone protein bassoon. Neuron 37 (2003) 787-800
2. Angeloni D., Lindor N.M., Pack S., Latif F., Wei M.-H., and Lerman M.I. CALL gene is haploinsufficient in a 3 p-syndrome patient. Am. J. Hum. Genet. 86 (1999) 482-485
3. Cargile C.B., Goh D.L.-M., Goodman B.K., Chen X.-N., Korenberg J.R., Semenza G.L., and Thomas G.H. Molecular cytogenetic characterization of a subtle interstitial del(3) (p25.3p26.2) in a patient with deletion 3 p syndrome. Am. J. Med. Genet. 109 (2002) 133-138
4. de Silva M.G., Elliot K., Dahl H.-H., Fitzpatrick E., Wilcox S., Delatycki M., Williamson R., Efron D., Lynch M., and Forrest S. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J. Med. Genet. 40 (2003) 733-740
5. Dick O., tom Dieck S., Altrock W.D., Ammermüller J., Weiler R., Garner C.C., Gundelfinger E.D., and Brandstätter J.H. The presynaptic active zone protein bassoon is essential for photoreceptor ribbon synapse formation in the retina. Neuron 37 (2003) 775-786
6. Fazzari P., Penachioni J., Gianola S., Rossi F., Eickholt B.J., Maina F., Alexopoulou L., Sottile A., Comoglio P.M., Flavell R.A., and Tamagnone L. Plexin-B1 plays a redundant role during mouse development and in tumor angiogenesis. BMC Dev. Biol. 7 (2007) 55
7. Lalli C., Galasso C., Lo Castro A.L., Nardone A.M., Di Paolo A., and Curatolo P. Interstitial deletion of a proximal 3 p: a clinically recognizable syndrome. Brain Dev. 29 (2007) 312-316
8. Lin X., Ogiya M., Takajara M., Yamaguchi W., Furuyama T., Tanaka H., Tohyama M., and Inagaki S. Sema4D-plexin-B1 implicated in regulation of dendritic spine density through RhoA/ROCK pathway. Neurosci. Lett. 428 (2007) 1-6
9. Ming J.E., Geiger E., James A.C., Ciprero K.L., Nimmakayalu M., Zhang Y., Huang A., Vaddi M., Rappaport E., Zackai E.H., and Shaikh T.H. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum. Mutat. 27 (2006) 467-473
10. Mowrey P.N., Chorney M.J., Venditti C.P., Latif F., Modi W.S., Lerman M.I., Zbar B., Robins D.B., Rogan P.K., and Ladda R.L. Clinical and molecular analyses of deletion 3p25-pter syndrome. Am. J. Med. Genet. 46 (1993) 623-629
11. Petek E., Windpassinger C., Simma B., Mueller T., Wagner K., and Kroisel P.M. Molecular characterization of a 15 Mb constitutional de novo interstitial deletion of a chromosome 3 p in a boy with developmental delay and congenital anomalies. J. Hum. Genet. 48 (2003) 283-287
12. Shima Y., Kawaguchi S.-Y., Kosaka K., Nakayama M., Hoshino M., Nabeshim Y., Hirano T., and Uemura T. Opposing roles in neurite growth control by two seven-pass transmembrane cadherins. Nat. Neurosci. 10 (2007) 963-969
13. Szabo V., Kreienkamp H.-J., Rosenberg T., and Gal A. p.Glu200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum. Mutat. (2007) Mutation in Brief #970
14. Tissir F., Bar I., Jossin Y., De Backer O., and Goffinet A.M. Protocadherin Celsr3 is crucial in axonal tract development. Nat. Neurosci. 8 (2005) 451-457
15. Wieczorek D., Bolt J., Schwechheimer K., and Gillessen-Kaesbach G. A patient with interstitial deletion of the short arm of chromosome 3 (pter → p21.2::p12 → qter) and a CHARGE-like phenotype. Am. J. Med. Genet. 69 (1997) 413-417