Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

European Journal of Human Genetics

Volumn 25, Issue 1, 2016, Pages 43-51

  El Chehadeh, Salima ^a,b   Kerstjens Frederikse, Wilhelmina S ^c   Thevenon, Julien ^a,d   Kuentz, Paul ^a,d   Bruel, Ange Line ^d   Thauvin Robinet, Christel ^a,d   Bensignor, Candace ^e   Dollfus, Hélène ^b   Laugel, Vincent ^b,f   Rivière, Jean Baptiste ^a,d   Duffourd, Yannis ^a   Bonnet, Caroline ^e   Robert, Matthieu P ^g   Isaiko, Rodica ^h   Straub, Morgane ^a   Creuzot Garcher, Catherine ^a   Calvas, Patrick ⁱ   Chassaing, Nicolas ^j   Loeys, Bart ^j   Reyniers, Edwin ^j   Vandeweyer, Geert ^j   Kooy, Frank ^j   Hančárová, Miroslava ^k   Havlovicová, Marketa ^k   Prchalová, Darina ^k   Sedláček, Zdenek ^k   Gilissen, Christian ^l   Pfundt, Rolph ^l   Wassink Ruiter, Jolien S Klein ^c   Faivre, Laurence ^a,d   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e Medical University of Dijon   (France)

^f HÔPITAL DE HAUTEPIERRE   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h école normale supérieure Paris Saclay   (France)

ⁱ CHU PURPAN   (France)

^j ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^k UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; DNA; ISOLEUCINE; LYSINE; NUCLEIC ACID BINDING PROTEIN; POLY U BINDING SPLICING FACTOR 60 KDA; THREONINE; UNCLASSIFIED DRUG; VALINE; POLY-U BINDING SPLICING FACTOR 60KDA; REPRESSOR PROTEIN; RNA SPLICING FACTOR;

ADOLESCENT; AUTOSOMAL DOMINANT DISORDER; BRAIN MALFORMATION; BRANCHIAL DEFECT; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; IRIS COLOBOMA; JOINT DISLOCATION; JOINT LAXITY; KIDNEY MALFORMATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MICROPHTHALMIA; MISSENSE MUTATION; NONSENSE MUTATION; OPTIC NERVE HYPOPLASIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SPLICEOSOME; VERHEIJ SYNDROME; VERTEBRA MALFORMATION; WHOLE EXOME SEQUENCING; CHROMOSOME 8; DWARFISM; EXOME; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOPHYSIOLOGY; RNA SPLICING;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; DWARFISM; EXOME; FEMALE; FRAMESHIFT MUTATION; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE; REPRESSOR PROTEINS; RNA SPLICING; RNA SPLICING FACTORS;

EID: 84994181312     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.133     Document Type: Conference Paper

References (15)

1. Rauch A, Wieczorek D, Graf E et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674-1682
2. Ligt J, Willemsen MH, van Bon BW et al: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921-1929
3. Gilissen C, Hehir-Kwa JY, Thung DT et al: Genome sequencing identifies major causes of severe intellectual disability. Nature 2014; 511: 344-347
4. Kielkopf CL, Lücke S, Green MR.: U2AF homology motifs: protein recognition in the RRM world. Genes Dev 2004; 18: 1513-1526
5. Hastings ML, Allemand E, Duelli DM, Myers MP, Krainer AR.: Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One 2007; 2: e538
6. Verheij JB, de Munnik SA, Dijkhuizen T et al: An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet 2009; 52: 353-357
7. Wells C, Spaggiari E, Malan V et al: First fetal case of the 8q24.3 contiguous genes syndrome. Am J Med Genet 2016; 170: 239-242
8. Dauber A, Golzio C, Guenot C et al: SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet 2013; 93: 798-811
9. Neveling K, Feenstra I, Gilissen C et al: A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013; 34: 1721-1726
10. Helsmoortel C, Vandeweyer G, Ordoukhanian P, Van Nieuwerburgh F, Van der Aa N, Kooy RF.: Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. Clin Genet 2015; 88: 140-148
11. Vandeweyer G, Van Laer L, Loeys B, Van den Bulcke T, Kooy RF.: VariantDB: a flexible annotation and filtering portal for next generation sequencing data. Genome Med 2014; 6: 74
12. Hennekam RC, Biesecker LG.: Next-generation sequencing demands next-generation phenotyping. Hum Mutat 2012; 33: 884-886
13. Skouloudaki K, Puetz M, Simons M et al: Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development. Proc Natl Acad Sci USA 2009; 106: 8579-8584
14. Bernier FP, Caluseriu O, Ng S et al: Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012; 90: 925-933
15. Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL: Identification of genes for childhood heritable diseases. Annu Rev Med 2014; 65: 19-31