15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism

Gene

Volumn 508, Issue 1, 2012, Pages 92-95

  Madrigal, Irene ^a,b   Rodríguez Revenga, Laia ^a,b   Xunclà, Mar ^b   Milà, Montserrat ^a,b  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

15q11.2 deletion; Autism; CYFIP1; FMR1; Intellectual disabilities

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ALLELE; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MOTOR DYSFUNCTION; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; SPEECH DISORDER;

AUTISTIC DISORDER; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84865539083     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.07.023     Document Type: Article

References (24)

1. Aziz M., et al. Clinical features of boys with fragile X premutations and intermediate alleles. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003, 121B:119-127.
2. Bittel D.C., Kibiryeva N., Butler M.G. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 2006, 118:e1276-e1283.
3. Brunetti-Pierri N., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 2008, 40:1466-1471.
4. Burnside R.D., et al. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum. Genet. 2011.
5. Butler M.G., Bittel D.C., Kibiryeva N., Talebizadeh Z., Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004, 113:565-573.
6. Clifford S., Dissanayake C., Bui Q.M., Huggins R., Taylor A.K., Loesch D.Z. Autism spectrum phenotype in males and females with fragile X full mutation and premutation. J. Autism Dev. Disord. 2007, 37:738-747.
7. Depienne C., et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol. Psychiatry 2009, 66:349-359.
8. Doornbos M., et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur. J. Med. Genet. 2009, 52:108-115.
9. Farzin F., et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J. Dev. Behav. Pediatr. 2006, 27:S137-S144.
10. Goytain A., Hines R.M., El-Husseini A., Quamme G.A. NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. J. Biol. Chem. 2007, 282:8060-8068.
11. Goytain A., Hines R.M., Quamme G.A. Functional characterization of NIPA2, a selective Mg2+ transporter. Am. J. Physiol. Cell Physiol. 2008, 295:C944-C953.
12. Hannes F.D., et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J. Med. Genet. 2009, 46:223-232.
13. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408.
14. Locke D.P., et al. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J. Med. Genet. 2004, 41:175-182.
15. Makoff A.J., Flomen R.H. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol. 2007, 8:R114.
16. Murthy S.K., et al. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. Cytogenet. Genome Res. 2007, 116:135-140.
17. Napoli I., et al. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell 2008, 134:1042-1054.
18. Nishimura Y., et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum. Mol. Genet. 2007, 16:1682-1698.
19. Nowicki S.T., et al. The Prader-Willi phenotype of fragile X syndrome. J. Dev. Behav. Pediatr. 2007, 28:133-138.
20. Pujana M.A., Nadal M., Guitart M., Armengol L., Gratacos M., Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur. J. Hum. Genet. 2002, 10:26-35.
21. Rainier S., Chai J.H., Tokarz D., Nicholls R.D., Fink J.K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 2003, 73:967-971.
22. Sempere Perez A., Manchon Trives I., Palazon Azorin I., Alcaraz Mas L., Perez Lledo E., Galan Sanchez F. [15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. An. Pediatr. (Barc) 2011, 75:58-62.
23. Stefansson H., et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:232-236.
24. Yobb T.M., et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am. J. Hum. Genet. 2005, 76:865-876.