Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Human Genetics

Volumn 134, Issue 6, 2015, Pages 553-568

  Bramswig, Nuria C ^a   Lüdecke, Hermann Josef ^a   Alanay, Yasemin ^b,c   Albrecht, Beate ^a   Barthelmie, Alexander ^a,d   Boduroglu, Koray ^c   Braunholz, Diana ^e   Caliebe, Almuth ^f   Chrzanowska, Krystyna H ^g   Czeschik, Johanna Christina ^a   Endele, Sabine ^h   Graf, Elisabeth ⁱ   Guillén Navarro, Encarna ^j,k,l   Kiper, Pelin Özlem Simsek ^c   López González, Vanesa ^j,k   Parenti, Ilaria ^e,m   Pozojevic, Jelena ^e   Utine, Gulen Eda ^c   Wieland, Thomas ⁱ   Kaiser, Frank J ^e   Wollnik, Bernd ⁿ   Strom, Tim M ^i,o   Wieczorek, Dagmar ^a   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b ACIBADEM UNIVERSITY   (Turkey)

^c HACETTEPE UNIVERSITY   (Turkey)

^d Kantonsspital Baden   (Switzerland)

^e UNIVERSITY OF LÜBECK   (Germany)

^f UNIVERSITY OF KIEL   (Germany)

^g CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^h UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

ⁱ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^j HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^k INSTITUTO DE SALUD CARLOS III   (Spain)

^l CATHOLIC UNIVERSITY OF MURCIA   (Spain)

^m UNIVERSITY OF MILAN   (Italy)

ⁿ UNIVERSITY OF COLOGNE   (Germany)

^o TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA HELICASE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N-METHYL D-ASPARTATE RECEPTOR SUBTYPE 2A; NERVE PROTEIN; NUCLEAR PROTEIN; SHANK3 PROTEIN, HUMAN; SMARCA2 PROTEIN, HUMAN; SMARCA4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CLINICAL TRIAL; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; EXOME; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETICS; HAND DEFORMITIES, CONGENITAL; HIGH THROUGHPUT SEQUENCING; HUMAN; HYPOTRICHOSIS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROGNATHISM; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NECK; VERY ELDERLY;

ABNORMALITIES, MULTIPLE; ADULT; AGED, 80 AND OVER; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA HELICASES; EXOME; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOTRICHOSIS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROGNATHISM; MIDDLE AGED; MUTATION; NECK; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; RECEPTORS, N-METHYL-D-ASPARTATE; TRANSCRIPTION FACTORS;

EID: 84936765373     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1535-8     Document Type: Article

References (33)

1. Berland S, Alme K, Brendehaug A, Houge G, Hovland R (2011) PHF6 deletions may cause Borjeson–Forssman–Lehmann syndrome in females. Mol Syndromol. 1:294–300. doi:10.1159/000330111
2. Bogershausen N, Wollnik B (2013) Unmasking Kabuki syndrome. Clin Genet 83:201–211. doi:10.1111/cge.12051
3. Carvill GL et al (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 45:1073–1076. doi:10.1038/ng.2727
4. Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433–439
5. Crawford J et al (2006) Mutation screening in Borjeson–Forssman–Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. J Med Genet 43:238–243. doi:10.1136/jmg.2005.033084
6. de Ligt J et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929. doi:10.1056/NEJMoa1206524
7. Dentici ML et al (2014) Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. doi:10.1136/archdischild-2013-305858
8. Digilio MC, Baban A, Marino B, Dallapiccola B (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:1111–1113. doi:10.1007/s00246-010-9773-y
9. Durand CM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25–27. doi:10.1038/ng1933
10. Endele S et al (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42:1021–1026. doi:10.1038/ng.677
11. Hoyer J et al (2012) Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 90:565–572. doi:10.1016/j.ajhg.2012.02.007
12. Jones WD et al (2012) De novo mutations in MLL cause Wiedemann–Steiner syndrome. Am J Hum Genet 91:358–364. doi:10.1016/j.ajhg.2012.06.008
13. Kosho T, Okamoto N (2014) Genotype–phenotype correlation of Coffin–Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Am J Med Genet C Semin Med Genet 166C:262–275. doi:10.1002/ajmg.c.31407
14. Leblond CS et al (2014) Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet 10:e1004580. doi:10.1371/journal.pgen.1004580
15. Lower KM et al (2002) Mutations in PHF6 are associated with Borjeson–Forssman–Lehmann syndrome. Nat Genet 32:661–665. doi:10.1038/ng1040
16. Malak R, Kotwicka M, Krawczyk-Wasielewska A, Mojs E, Samborski W (2013) Motor skills, cognitive development and balance functions of children with Down syndrome. Ann Agric Environ Med 20:803–806
17. Nicolaides P, Baraitser M (1993) An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2:232–236
18. Phelan K, McDermid HE (2012) The 22q13.3 deletion syndrome (Phelan–McDermid syndrome). Mol Syndromol. 2:186–201 (000334260)
19. Raggio DJ, Massingale TW, Bass JD (1994) Comparison of Vineland Adaptive Behavior Scales-Survey Form age equivalent and standard score with the Bayley Mental Development Index. Percept Mot Skills 79:203–206. doi:10.2466/pms.1994.79.1.203
20. Santen GW et al (2012) Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin–Siris syndrome. Nat Genet 44:379–380. doi:10.1038/ng.2217
21. Shaheen R et al (2011) Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams–Oliver syndrome. Am J Hum Genet 89:328–333. doi:10.1016/j.ajhg.2011.07.009
22. Shaheen R et al (2013) Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams–Oliver syndrome. Am J Hum Genet 92:598–604. doi:10.1016/j.ajhg.2013.02.012
23. Soorya L et al (2013) Prospective investigation of autism and genotype–phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency Mol. Autism 4:18. doi:10.1186/2040-2392-4-18
24. Sousa SB, Hennekam RC (2014) Phenotype and genotype in Nicolaides–Baraitser syndrome. Am J Med Genet C Semin Med Genet 166C:302–314. doi:10.1002/ajmg.c.31409
25. Sousa SB et al (2009) Nicolaides–Baraitser syndrome: delineation of the phenotype. Am J Med Genet A 149A:1628–1640. doi:10.1002/ajmg.a.32956
26. Strom SP et al (2014) De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann–Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet 15:49. doi:10.1186/1471-2350-15-49
27. Tsurusaki Y et al (2012) Mutations affecting components of the SWI/SNF complex cause Coffin–Siris syndrome. Nat Genet 44:376–378. doi:10.1038/ng.2219
28. Tsurusaki Y et al (2014) De novo SOX11 mutations cause Coffin–Siris syndrome. Nat Commun 5:4011. doi:10.1038/ncomms5011
29. Van Houdt JK et al (2012) Heterozygous missense mutations in SMARCA2 cause Nicolaides–Baraitser syndrome. Nat Genet 44(445–449):S441. doi:10.1038/ng.1105
30. Wieczorek D et al (2013) A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121–5135. doi:10.1093/hmg/ddt366
31. Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11:481–492. doi:10.1038/nrc3068
32. Yuan SM (2013) Congenital heart defects in Kabuki syndrome. Cardiol J 20:121–124. doi:10.5603/CJ.2013.0023
33. Zweier C et al (2014) Females with de novo aberrations in PHF6: clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome. Am J Med Genet C Semin Med Genet 166C:290–301. doi:10.1002/ajmg.c.31408