Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

American Journal of Medical Genetics, Part A

Volumn 146, Issue 13, 2008, Pages 1718-1724

  Bedeschi, Maria Francesca ^a,e   Novelli, Antonio ^b   Bernardini, Laura ^b   Parazzini, Cecilia ^c   Bianchi, Vera ^a   Torres, Barbara ^b,d   Natacci, Federica ^a   Giuffrida, Maria Grazia ^b,d   Ficarazzi, Paola ^a   Dallapiccola, Bruno ^b   Lalatta, Faustina ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c V BUZZI CHILDREN S HOSPITAL   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e Mangiagalli e Regina Elena   (Italy)

Author keywords

Array CGH; Brain anomalies; Duplication oligophrenin 1; Fish analysis; Genetic counseling; X linked mental retardation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME DUPLICATION; CHROMOSOME XQ12Q13.1 DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOPHRENIN 1 GENE; PHENOTYPE; PREGNANCY TERMINATION; PRIORITY JOURNAL; SEIZURE; SPEECH DISORDER; STRABISMUS; TRISOMY 18;

ADULT; ANEUPLOIDY; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, X; CRANIOFACIAL ABNORMALITIES; CYTOSKELETAL PROTEINS; DNA PRIMERS; FEMALE; GTPASE-ACTIVATING PROTEINS; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PREGNANCY; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 47149118680     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32365     Document Type: Article

References (14)

1. Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Hausler M, Mull M, Ramaekers VT. 2003. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 126:1537-1544.
2. Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. 2007. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation. Eur J Med Genet 50:94-102.
3. Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B. 2008. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet Part A 146A:238-244.
4. Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D. 1997. Mapping the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. Eur J Hum Genet 5:105-109.
5. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Crollius HR, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Protein involved in X-linked mental retardation. Nature 392:923-926.
6. Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. 2005. Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Am J Med Genet Part A 138A:314-317.
7. Chelly J, Mandel JL. 2001. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2:559-580.
8. Chiurazzi P, Tabolacci E, Neri G. 2004. X-linked mental retardation (XLMR): From clinical conditions to cloned genes. Crit Rev Clin Lab Sci 41:117-158.
9. De Luca A, Bottillo I, Dasdia MC, Morella A, Lanari V, Bernardini L, Divona L, Giustini S, Sinibaldi L, Novelli A, Torrente I, Schirinzi A, Dallapiccola B. 2007. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet 44:800-808.
10. Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. 2003. Mutation in the oligophrenin-1 (OPHN1) cause X-linked congenital cerebellar hypoplasia. J Med Genet 40:441-446.
11. 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.
12. Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des portes V, Beldjord C, Chelly J. 2005. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 65:1364-1369.
13. Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H. 2001. A high density of X-link genes for general cognitive ability: A run-away process shaping human evolution? Trends Genet 17:697-701.
14. Zipkin ID, Kindt RM, Kenyon CJ. 1997. Role of a new Rho family member in cell migration and axon guidance in C elegans. Cell 90:883-894.