Further delineation of the KAT6B molecular and phenotypic spectrum

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1165-1170

  Gannon, Tamsin ^a   Perveen, Rahat ^a   Schlecht, Hélene ^a   Ramsden, Simon ^a   Anderson, Beverley ^a   Kerr, Bronwyn ^a   Day, Ruth ^a   Banka, Siddharth ^a   Suri, Mohnish ^b   Berland, Siren ^c   Gabbett, Michael ^d   Ma, Alan ^e   Lyonnet, Stan ^f   Cormier Daire, Valerie ^f   Yilmaz, Rüstem ^g   Borck, Guntram ^g   Wieczorek, Dagmar ^h   Anderlid, Britt Marie ⁱ   Smithson, Sarah ^j   Vogt, Julie ^k   Moore Barton, Heather ^e   Simsek Kiper, Pelin Ozlem ^l   Maystadt, Isabelle ^m   Destrée, Anne ^m   Bucher, Jessica ⁿ   Angle, Brad ⁿ   Mohammed, Shehla ^o   Wakeling, Emma ^p   Price, Sue ^q   Singer, Amihood ^r   Sznajer, Yves ^s   Toutain, Annick ^t   Haye, Damien ^t   Newbury Ecob, Ruth ^j   Fradin, Melanie ^u   McGaughran, Julie ^d   Tuysuz, Beyhan ^v   Tein, Mark ^k   Bouman, Katelijne ^w   Dabir, Tabib ^x   Van Den Ende, Jenneke ^y   Luk, Ho Ming ^z   Pilz, Daniela T ^aa   Eason, Jacqueline ^b   Davies, Sally ^aa   Reardon, Willie ^ab   Garavelli, Livia ^ac   Zuffardi, Orsetta ^ad   Devriendt, Koen ^ae   Armstrong, Ruth ^af   Johnson, Diana ^ag   Doco Fenzy, Martine ^ah   Bijlsma, Emilia ^ai   Unger, Sheila ^aj   Veenstra Knol, Hermine E ^w   Kohlhase, Jürgen ^ak   Lo, Ivan F M ^z   Smith, Janine ^e   Clayton Smith, Jill ^a   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g UNIVERSITY OF ULM   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^j UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^k BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^l HACETTEPE UNIVERSITY   (Turkey)

^m INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

ⁿ CHILDREN'S MEMORIAL HOSPITAL   (United States)

^o GUY S HOSPITAL   (United Kingdom)

^p NHS Trust   (United Kingdom)

^q NORTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^r BARZILAI MEDICAL CENTER   (Israel)

^s CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^t UNIVERSITY HOSPITAL OF TOURS   (France)

^u UNIVERSITÉ DE RENNES 1   (France)

^v ISTANBUL UNIVERSITY   (Turkey)

^w UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^x BELFAST CITY HOSPITAL   (United Kingdom)

^y Centre for Medical Genetics   (Belgium)

^z DEPARTMENT OF HEALTH   (Hong Kong)

^aa UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^ab OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^ac Rheumatology Unit   (Italy)

^ad UNIVERSITY OF PAVIA   (Italy)

^ae UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^af ADDENBROOKE S HOSPITAL   (United Kingdom)

^ag SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^ah REIMS UNIVERSITY HOSPITAL   (France)

^ai LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^aj LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^ak UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE ACETYLTRANSFERASE; KAT6B PROTEIN; UNCLASSIFIED DRUG; KAT6B PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ARTICLE; BLEPHAROPHIMOSIS; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEEDING DIFFICULTY; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GENITOPATELLAR SYNDROME; GENOTYPE PHENOTYPE CORRELATION; HALLUX; HAPLOINSUFFICIENCY; HUMAN; LEG MALFORMATION; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; MUSCLE HYPOTONIA; PARENT; PATELLA; PRIORITY JOURNAL; RISK FACTOR; SAY BARBER BIESECKER SYNDROME; STATISTICAL ANALYSIS; THUMB; THYROID GLAND; TOOTH; ABNORMALITIES; CONGENITAL HYPOTHYROIDISM; CRANIOFACIAL ABNORMALITIES; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; EXOME; FACIES; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HEART DEFECTS, CONGENITAL; INTELLECTUAL DISABILITY; JOINT INSTABILITY; KIDNEY; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DISORDERS; SCROTUM; SEVERITY OF ILLNESS INDEX; UROGENITAL ABNORMALITIES;

BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FACIES; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEART DEFECTS, CONGENITAL; HISTONE ACETYLTRANSFERASES; HUMANS; INTELLECTUAL DISABILITY; JOINT INSTABILITY; KIDNEY; MALE; MUTATION; PATELLA; PHENOTYPE; PSYCHOMOTOR DISORDERS; SCROTUM; SEVERITY OF ILLNESS INDEX; UROGENITAL ABNORMALITIES;

EID: 84939580750     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.248     Document Type: Article

References (17)

1. Verloes A, Bremond-Gignac D, Isidor B et al: Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet 2006; 140A: 1285-1296.
2. Day R, Beckett B, Donnai D et al: A clinical and genetic study of the Say/Barber/ Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet 2008; 74: 434-444.
3. Young ID, Simpson K: Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 1987; 24: 715-716.
4. Clayton-Smith J, O'Sullivan J, Daly S et al: Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet 2011; 89: 675-681.
5. Szakszon K, Salpietro C, Kakar N et al: De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. Am J Med Genet 2013; 161A: 884-888.
6. Yu HC, Geiger EA, Medne L et al: An individual with blepharophimosisptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet 2014; 164A: 950-957.
7. Campeau PM, Kim JC, Lu JT et al: Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome. Am J Hum Genet 2012; 90: 282-289.
8. Simpson MA, Deshpande C, Dafou D et al: De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome. Am J Hum Genet 2012; 90: 290-294.
9. Cormier-Daire V, Chauvet ML, Lyonnet S et al: Genito-patellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism and mental retardation. J Med Genet 2000; 37: 520-524.
10. Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R et al: Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 2012; 91: 998-1010.
11. Campeau PM, Lu J, Dawson JT et al: The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation 2012; 33: 1520-1525.
12. Tzschach A, Bisgaard AM, Kirchhoff M et al: Chromosome aberrations involving 10q22; report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet 2010; 18: 291-295.
13. Firth HV, Wright CF: DDD Study. The Deciphering Developmental Disorders (DDD) study. Dev Med Child Neurol 2011; 53: 702-703.
14. Kraft M, Cirstea IC, Voss AK et al: Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest 2011; 121: 3479-3491.
15. Ohdo S, Madokoro H, Sonoda T et al: Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth. J Med Genet 1986; 23: 242-244.
16. Maat-Kievit JA, Milla PJ, Collins JE et al: A case with blepharophimosis resembling Ohdo syndrome. Clin Dysmorphol 1994; 3: 125-127.
17. Anneke T, van Silfhout V, Bert BA, de Vries, Bregje WM van Bon et al: Mutations in MED12 Cause X-Linked Ohdo Syndrome. Am J Hum Genet 2013; 92: 401-406.