Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages 564-573

  Parenti, I ^a,b   Gervasini, C ^b   Pozojevic, J ^a   Wendt, K S ^c   Watrin, E ^d   Azzollini, J ^b   Braunholz, D ^a   Buiting, K ^e   Cereda, A ^f   Engels, H ^g   Garavelli, L ^h   Glazar, R ⁱ   Graffmann, B ^j   Larizza, L ^k   Ludecke H J ^e   Mariani, M ^f   Masciadri, M ^k   Pie J ^l   Ramos, F J ^l,m   Russo, S ^k   Selicorni, A ^f   Stefanova, M ^j   Strom, T M ^n,o   Werner, R ^a   Wierzba, J ^p   Zampino, G ^q   Gillessen Kaesbach, G ^a   Wieczorek, D ^e   Kaiser, F J ^a   more..

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF MILAN   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITÉ DE RENNES 1   (France)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^f UOS Genetica Clinica Pediatrica   (Italy)

^g UNIVERSITY OF BONN   (Germany)

^h S MARIA NUOVA HOSPITAL   (Italy)

ⁱ The Center for Medical Genetics GENESIS Poznan   (Poland)

^j LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^k ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^l UNIVERSITY OF ZARAGOZA   (Spain)

^m HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

ⁿ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^o INSTITUTE OF EPIDEMIOLOGY   (Germany)

^p MEDICAL UNIVERSITY OF GDANSK   (Poland)

^q CATHOLIC UNIVERSITY   (Italy)

more..

Author keywords

Cohesin; Cornelia de Lange syndrome; HDAC8; Mosaicism; X inactivation

Indexed keywords

HISTONE DEACETYLASE 8; HDAC8 PROTEIN, HUMAN; HISTONE DEACETYLASE; REPRESSOR PROTEIN;

ARTICLE; CHILD; CLINICAL ARTICLE; DE LANGE SYNDROME; FEMALE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC RISK; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSTICS; MOSAICISM; NEXT GENERATION SEQUENCING; PATIENT COUNSELING; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; SIBLING; X CHROMOSOME INACTIVATION; ABNORMALITIES; AMINO ACID SEQUENCE; CLINICAL TRIAL; DNA SEQUENCE; FACE; FACE ASYMMETRY; FACIES; GENETICS; GENOTYPE; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; RISK FACTOR; SEQUENCE HOMOLOGY; SEVERITY OF ILLNESS INDEX;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DE LANGE SYNDROME; FACE; FACIAL ASYMMETRY; FACIES; FEMALE; GENETIC COUNSELING; GENOTYPE; HISTONE DEACETYLASES; HUMANS; MALE; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; RISK FACTORS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SEVERITY OF ILLNESS INDEX; X CHROMOSOME INACTIVATION;

EID: 84956676199     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12717     Document Type: Article

References (21)

1. Kline AD, Krantz ID, Sommer A et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007: 143A (12): 1287-1296.
2. Krantz ID, McCallum J, DeScipio C et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004: 36 (6): 631-635.
3. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004: 36 (6): 636-641.
4. Musio A, Selicorni A, Focarelli ML et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006: 38 (5): 528-530.
5. Deardorff MA, Kaur M, Yaeger D et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007: 80 (3): 485-494.
6. Deardorff MA, Wilde JJ, Albrecht M et al. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012a: 90 (6): 1014-1027.
7. Deardorff MA, Bando M, Nakato R et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 2012b: 489 (7415): 313-317.
8. Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013: 50 (5): 339-344.
9. Braunholz D, Obieglo C, Parenti I et al. Hidden mutations in CdLS - limitations of Sanger sequencing in molecular diagnostics. Hum Mutat 2015: 36 (1): 26-29.
10. Selicorni A, Russo S, Gervasini C et al. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 2007: 72 (2): 98-108.
11. Gervasini C, Russo S, Cereda A et al. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet 2013: A161 (11): 2909-2919.
12. Gil-Rodríguez MC, Deardorff MA, Ansari M et al. De novo heterozygous mutations in SMC3 cause a range of Cornelia De Lange syndrome-overlapping phenotypes. Hum Mutat 2015: 36 (4): 454-462.
13. Kaiser FJ, Ansari M, Braunholz D et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014: 23 (11): 2888-2900.
14. Feng L, Zhou D, Zhang Z, Liu Y, Yang Y. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. J Hum Genet 2014: 59 (9): 536-539.
15. Yuan B, Pehlivan D, Karaca E et al. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest 2015: 125 (2): 636-651.
16. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010: 26: 589-595.
17. Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN. Jannovar: a java library for exome annotation. Hum Mutat 2014: 35 (5): 548-555.
18. Kamphans T, Krawitz PM. GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics 2012: 28 (19): 2515-2516.
19. 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 (9854): 1674-1682.
20. Harakalova M, van den Boogard MJ, Sinke R et al. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet 2012: 49: 539-543.
21. Ansari M, Poke G, Ferry Q et al. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes. J Med Genet 2014: 51 (10): 659-668.