19q13.32 microdeletion syndrome: Three new cases

European Journal of Medical Genetics

Volumn 57, Issue 11-12, 2014, Pages 654-658

  Castillo, Angela ^a   Kramer, Nancy ^a   Schwartz, Charles E ^b   Miles, Judith H ^c   DuPont, Barbara R ^b   Rosenfeld, Jill A ^d   Graham, John M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c University of Missouri   (United States)

^d Signature Genomics   (United States)

Author keywords

19q13.32 microdeletion; ARHGAP35; Copy number variants; Dysmorphic features; Hypoplastic corpus callosum; Intellectual disability; NAPA; NPAS1; SLC8A2; SNP chromosomal microarray

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FACE ASYMMETRY; FACE DYSMORPHIA; FEMALE; HUMAN; HYPOSPADIAS; INGUINAL HERNIA; KYPHOSCOLIOSIS; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; OPHTHALMOPLEGIA; PHENOTYPE; PTOSIS; SYNDACTYLY; SYNDROME; ABNORMALITIES, MULTIPLE; CHROMOSOME 19; CHROMOSOME DISORDERS; CRANIOFACIAL ABNORMALITIES; GENETICS; INTELLECTUAL DISABILITY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE;

EID: 84918815723     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.08.009     Document Type: Article

References (18)

1. Anastasaki C., Longman D., Capper A., Patton E., Caceres J. Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish. Nucleic Acids Res 2011, 39:3686-3694.
2. Bearer E., Chen A.F., Chen A.H., Li Z., Mark H., Smith R., et al. 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss locus, DFNA4. Ann Hum Genet 2000, 64:189-196.
3. Choi E., Han C., Park I., Lee B., Jin S., Choi H., et al. Anovel germ cell-specific protein, SHIP1, forms a complex with chromatin remodeling activity during spermatogenesis. JBiolChem 2008, 35283-35294.
4. Duker A., Ballif B., Bawle E., Person R., Mahadevan S., Alliman S., et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader- Willi syndrome. Eur J Hum Genet 2010, 18:1196-1201.
5. Elkouby Y., Elias S., Casey E., Blyhe S., Tsabar N., Klein P., et al. Mesodermal Wnt signaling organizes the neural plate via Meis3. Development 2010, 137:1531-1541.
6. Floris C., Rassu S., Boccone L., Gasperini D., Cao A., Crisponi L. Two patients with balanced translocation and autistic disorder: CSMD3as a candidate gene for autism found in their common 8q23 breakpoint area. Eur J Hum Genet 2008, 16:696-704.
7. Hoekstra E., Mesman S., de Munnik W., Smidt M. LMX1B is part of a transcriptional complex PSPC1 and PSF. PLoS ONE 2013, 1-13.
8. In der Rieden P., Jansen H., Durston A. XMeis3 is necessary for mesodermal hox gene expression and function. PLoS 2011, 28:1-10.
9. Khananshvili D. The SLC8 family of sodium- calcium exchangers (NCX) - Structure, function, and regulation in health and disease. Mol Aspects Med 2013, 34:220-235.
10. Kolobov V.V., Storozheva Z.I., Gruden M.A., Sherstnev V.V. Regional features of the expression of genes involved in neurogenesis and apoptosis in the brain of adult rats. Bull Exp Biol Med 2012, 746-749.
11. Langman J., Sadler T.W. Langman Medical Embryology 2004, 95-99. Lippincott Williams & Wilkins. 19th ed.
12. Leal T., Andrieux J., Duban-Bedu B., Bouquillon S., Breviere G., Delobel B. Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features. Eur J Med Genet 2009, 52:62-66.
13. Marei H., Ahmed A., Michetti F., Pescatori M., Pallini R., Casalbore P., et al. Gene expression profile of adult human olfactory bulb and embryonic neural stem cell suggest distinct signaling pathways and epigenetic control. PLoS ONE 2012, 7:1-12.
14. Miller D., Adam M., Aradhya S., Biesecker L., Brothman A., Carter N., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010, 86:749-764.
15. Oeschger F., Wang W., Lee S., Garcia- Moreno F., Goffinet A., Arbones M., et al. Gene expression analysis of the embryonic subplate. Cereb Cortex 2012, 22:1343-1359.
16. Prasad A., Merico D., Thiruvahindrapuram B., Wei J., Lionel A., Sato D., et al. Adiscovery resource of rare copy number variations in individuals with Autism Spectrum Disorder. G3 (Bethesda) 2012, 12:1665-1682.
17. Shimizu A., Asakawa S., Sasaki T., Yamazaki S., Yamagata H., Kudoh J., et al. Anovel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: acandidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. Biochem Biophys Res Commun (BBRC) 2003, 309:143-154.
18. Zhong Y., Holland P. The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineage. BMC Evol Biol 2011, 169:1-13.