A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3035-3041

  De Wolf, Veerle ^a,b   Crepel, An ^a,b   Schuit, Frans ^b   van Lommel, Leentje ^b   Ceulemans, Berten ^c   Steyaert, Jean ^b,d   Seuntjens, Eve ^b   Peeters, Hilde ^a,b   Devriendt, Koen ^a,b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autism spectrum disorder; Candidate gene; Deletion; FAM120C; X linked

Indexed keywords

CYFIP1 PROTEIN; FAM120C PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; UNCLASSIFIED DRUG; FAM120C PROTEIN, HUMAN; FGD1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HISTONE DEMETHYLASE; MEMBRANE PROTEIN; PHF8 PROTEIN, HUMAN; PRIMER DNA; TRANSCRIPTION FACTOR;

ADULT; ANIMAL TISSUE; ARTICLE; AUTISM; BRAIN CORTEX; CEREBELLUM; CHROMOSOME DELETION; CHROMOSOME XP; CHROMOSOME XP 11.2; CLEFT PALATE; EXON; FACIOGENITAL DYSPLASIA; FAM120C GENE; FGD1 GENE; FMR1 GENE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYPOPHYSIS; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PANCREAS ISLET CELL; PHF8 GENE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; X CHROMOSOME LINKED DISORDER; ANIMAL; CASE REPORT; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DNA SEQUENCE; DWARFISM; FACE; GENE EXPRESSION PROFILING; GENETICS; HAND MALFORMATION; IN SITU HYBRIDIZATION; KARYOTYPING; MALE GENITAL SYSTEM; METABOLISM; POLYMERASE CHAIN REACTION; X CHROMOSOME;

ANIMALS; AUTISTIC DISORDER; CHROMOSOMES, HUMAN, X; DNA PRIMERS; DWARFISM; FACE; GENE EXPRESSION PROFILING; GENETIC DISEASES, X-LINKED; GENITALIA, MALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HISTONE DEMETHYLASES; HUMANS; IN SITU HYBRIDIZATION; KARYOTYPING; MALE; MEMBRANE PROTEINS; MICE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84911059332     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36752     Document Type: Article

References (30)

1. Abidi F, Miano M, Murray J, Schwartz C. 2007. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet 72:19-22.
2. Abitbol M, Menini C, Delezoide AL, Rhyner T, Vekemans M, Mallet J. 1993. Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nat Genet 4:147-153.
3. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
4. Bassell GJ, Warren ST. 2008. Fragile X syndrome: Loss of local mRNA regulation alters synaptic development and function. Neuron 60:201-214.
5. Bedoyan JK, Friez MJ, DuPont B, Ahmad A. 2009. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. Eur J Med Genet 52:262-264.
6. Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, Rayyan M, Allegaert K, Vanhole C, Eyskens B, Vermeesch JR, Gewillig M, Devriendt K. 2010. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr 156:810-817 817 e811-817 e814.
7. De Rubeis S, Bagni C. 2011. Regulation of molecular pathways in the Fragile X Syndrome: Insights into Autism Spectrum Disorders. J Neurodev Disord 3:257-269.
8. De Rubeis S, Pasciuto E, Li KW, Fernandez E, Di Marino D, Buzzi A, Ostroff LE, Klann E, Zwartkruis FJ, Komiyama NH, Grant SG, Poujol C, Choquet D, Achsel T, Posthuma D, Smit AB, Bagni C. 2013. CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron 79:1169-1182.
9. Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet 3:36-43.
10. Holden S, Raymond FL. 2003. The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34. Gene 318:149-161.
11. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. 2012. De novo gene disruptions in children on the autistic spectrum. Neuron 74:285-299.
12. Kobayashi Y, Suzuki K, Kobayashi H, Ohashi S, Koike K, Macchi P, Kiebler M, Anzai K. 2008. C9orf10 protein, a novel protein component of Puralpha-containing mRNA-protein particles (Puralpha-mRNPs): Characterization of developmental and regional expressions in the mouse brain. J Histochem Cytochem 56:723-731.
13. Koivisto AM, Ala-Mello S, Lemmela S, Komu HA, Rautio J, Jarvela I. 2007. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. Clin Genet 72:145-149.
14. Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. 2005. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet 42:780-786.
15. Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE. 2002. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet 61:139-145.
16. Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ, Ratcliffe PJ, Schofield CJ. 2010. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. Hum Mol Genet 19:217-222.
17. Marco EJ, Skuse DH. 2006. Autism-lessons from the X chromosome. Soc Cogn Affect Neurosci 1:183-193.
18. Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. 2006. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports. J Med Genet 43:625-633.
19. Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. 2012. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry 2:e179.
20. Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V. 2007. Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. Am J Med Genet A 143:58-63.
21. Piton A, Gauthier J, Hamdan FF, Lafreniere RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Cote M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Riviere JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA. 2011. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry 16:867-880.
22. Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME. 2008. Autism-associated familial microdeletion of Xp11.22. Clin Genet 74:134-144.
23. Seuntjens E, Nityanandam A, Miquelajauregui A, Debruyn J, Stryjewska A, Goebbels S, Nave KA, Huylebroeck D, Tarabykin V. 2009. Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors. Nat Neurosci 12:1373-1380.
24. Singh K, Gaur P, Prasad S. 2007. Fragile x mental retardation (Fmr-1) gene expression is down regulated in brain of mice during aging. Mol Biol Rep 34:173-181.
25. Staden R. 1996. The Staden sequence analysis package. Mol Biotechnol 5:233-241.
26. Steinberg J, Webber C. 2013. The roles of FMRP-regulated genes in autism spectrum disorder: Single- and multiple-hit genetic etiologies. Am J Hum Genet 93:825-839.
27. Thorrez L, Van Deun K, Tranchevent LC, Van Lommel L, Engelen K, Marchal K, Moreau Y, Van Mechelen I, Schuit F. 2008. Using ribosomal protein genes as reference: A tale of caution. PLoS One 3:e1854.
28. Van Lommel L, Janssens K, Quintens R, Tsukamoto K, Vander Mierde D, Lemaire K, Denef C, Jonas JC, Martens G, Pipeleers D, Schuit FC. 2006. Probe-independent and direct quantification of insulin mRNA and growth hormone mRNA in enriched cell preparations. Diabetes 55:3214-3220.
29. Waltes R, Duketis E, Knapp M, Anney RJ, Huguet G, Schlitt S, Jarczok TA, Sachse M, Kampfer LM, Kleinbock T, Poustka F, Bolte S, Schmotzer G, Voran A, Huy E, Meyer J, Bourgeron T, Klauck SM, Freitag CM, Chiocchetti AG. 2014. Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. Hum Genet 133:781-792.
30. Wingate M, Kirby R, Pettygrove S, Cunniff C, Schulz E, Ghosh T, Robinson C, Lee L, Landa R, Constantino J, Fitzgerald R, Zahorodny W, Daniels J, Nicholas J, Charles J, McMahon W, Bilder D, Durkin M, Baio J, Christensen D, Braun KV, Clayton H, Goodman A, Doernberg N, Yeargin-Allsopp M, Lott E, Mancilla KC, Hudson A, Kast K, Jolly K, Chang A, Harrington R, Fitzgerald R, Shenouda J, Bell P, Kingsbury C, Bakian A, Henderson A, Arneson C, Washington A, Frenkel G, Wright V. 2014. Prevalence of autism spectrum disorder among children aged 8 years-Autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 63:1-21.