The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Nikkel, Sarah M ^a   Dauber, Andrew ^b   De Munnik, Sonja ^c   Connolly, Meghan ^b   Hood, Rebecca L ^a   Caluseriu, Oana ^d   Hurst, Jane ^e   Kini, Usha ^f   Nowaczyk, Malgorzata J M ^g   Afenjar, Alexandra ^h   Albrecht, Beate ⁱ   Allanson, Judith E ^a   Balestri, Paolo ^j   Ben Omran, Tawfeg ^k   Brancati, Francesco ^l,m   Cordeiro, Isabel ⁿ   Da Cunha, Bruna Santos ^o   Delaney, Louisa A ^o   Destrée, Anne ^p   Fitzpatrick, David ^q   Forzano, Francesca ^r   Ghali, Neeti ^s   Gillies, Greta ^t   Harwood, Katerina ^u   Hendriks, Yvonne M C ^v   Héron, Delphine ^w   Hoischen, Alexander ^x   Honey, Engela Magdalena ^y   Hoefsloot, Lies H ^c   Ibrahim, Jennifer ^u   Jacob, Claire M ^w   Kant, Sarina G ^z   Kim, Chong Ae ^aa   Kirk, Edwin P ^ab   Knoers, Nine V A M ^ac   Lacombe, Didier ^ad   Lee, Chung ^ae   Lo, Ivan F M ^af   Lucas, Luiza S ^o   Mari, Francesca ^j   Mericq, Veronica ^ag   Moilanen, Jukka S ^ah   Møller, Sanne Traasdahl ^ai   Moortgat, Stephanie ^p   Pilz, Daniela T ^aj   Pope, Kate ^t   Price, Susan ^ak   Renieri, Alessandra ^j   Sá, Joaquim ^al   Schoots, Jeroen ^c   Silveira, Elizabeth L ^am   Simon, Marleen E H ^an   Slavotinek, Anne ^ae   Temple, I Karen ^ao   Van Der Burgt, Ineke ^c   De Vries, Bert B A ^c   Weisfeld Adams, James D ^ap   Whiteford, Margo L ^aq   Wierczorek, Dagmar ⁱ   Wit, Jan M ^z   Yee, Connie Fung On ^af   Beaulieu, Chandree L ^a   White, Sue M ^t   Bulman, Dennis E ^a   Bongers, Ernie ^c   Brunner, Han ^c   Feingold, Murray ^b   Boycott, Kym M ^a   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF ALBERTA   (Canada)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL ESSEN   (Germany)

^j UNIVERSITY OF SIENA   (Italy)

^k HAMAD MEDICAL CORPORATION   (Qatar)

^l TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^m UNIVERSITY OF CHIETI   (Italy)

ⁿ HOSPITAL DE SANTA MARIA   (Portugal)

^o PONTIFICAL CATHOLIC UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^p INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^q UNIVERSITY OF EDINBURGH   (United Kingdom)

^r GALLIERA HOSPITAL   (Italy)

^s NORTHWICK PARK HOSPITAL   (United Kingdom)

^t ROYAL CHILDREN'S HOSPITAL   (Australia)

^u ST JOSEPH S REGIONAL MEDICAL CENTER   (United States)

^v VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^w PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^x RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^y UNIVERSITY OF PRETORIA   (South Africa)

^z LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^aa UNIVERSITY OF SÃO PAULO   (Brazil)

^ab SYDNEY CHILDREN'S HOSPITAL   (Australia)

^ac UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ad UNIVERSITÉ DE BORDEAUX   (France)

^ae UNIVERSITY OF CALIFORNIA   (United States)

^af DEPARTMENT OF HEALTH   (China)

^ag UNIVERSITY OF CHILE   (Chile)

^ah OULU UNIVERSITY HOSPITAL   (Finland)

^ai ODENSE UNIVERSITY HOSPITAL   (Denmark)

^aj UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^ak NORTHAMPTON GENERAL HOSPITAL NHS TRUST   (United Kingdom)

^al CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^am Ambulatório de Genética Médica da Prefeitura de Porto Alegre   (Brazil)

^an ERASMUS MEDICAL CENTER   (Netherlands)

^ao UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^ap MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^aq SOUTHERN GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

Floating Harbor syndrome; Phenotype; Short stature; SRCAP

Indexed keywords

DNA; ADENOSINE TRIPHOSPHATASE; SRCAP PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; CHILD; CLINICAL FEATURE; EXON; FEMALE; FLOATING HARBOR SYNDROME; GENOTYPE; HUMAN; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; MUTATION; PHENOTYPE; PRESCHOOL CHILD; QUESTIONNAIRE; SCHOOL CHILD; CRANIOFACIAL MALFORMATION; GENETICS; GROWTH DISORDER; HEART SEPTUM DEFECT; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EXONS; FEMALE; GROWTH DISORDERS; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84876691492     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-63     Document Type: Article

References (14)

1. Case report 1. Pelletier G, Feingold M, Syndrome Identification 1973 1 8 9
2. The Floating-Harbor syndrome. Leisti J, Hollister DW, Rimoin DL, Birth Defects Orig Artic Ser 1975 11 305 1218224
3. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Canada Consortium FORGE, Majewski J, Bulman DE, White SM, Boycott KM, Am J Hum Genet 2012 90 308 313 10.1016/j.ajhg.2011.12.001 22265015
4. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, Laron Z, Rimoin DL, J Pediatr 1988 113 703 706 10.1016/S0022-3476(88)80384-6 3171794
5. Regulation of camp-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SCRAP. Monroy MA, Ruhl DD, Xu X, Granner DK, Yaciuk P, Chrivia JC, J Biol Chem 2001 276 40721 40726 10.1074/jbc.M103615200 11522779
6. Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. Feingold M, Am J Med Genet 2006 140A 782 784 10.1002/ajmg.a.31159
7. The phenotype of Floating-Harbor syndrome in 10 patients. White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA, Am J Med Genet A 2010 152A 821 829 10.1002/ajmg.a.33294 20358590
8. Floating-Harbor syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Heron D, Clin Dysmorphol 2012 2 11 14
9. Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. Wieczorek D, Wüsthof A, Harms E, Meinecke P, Am J Med Genet 2001 104 47 52 10.1002/ajmg.1585 11746027 (Pubitemid 33020148)
10. Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with floating-harbor syndrome. García RJ, Kant SG, Wit JM, Mericq V, J Pediatr Endocr Met 2012 24 207 212
11. Floating-harbor syndrome and polycystic kidneys associated with SRCAP muation. Reschen M, Kini U, Hood RL, Boycott KM, Hurst J, O'Callaghan CA, Am J Med Genet 2012 158A 3196 3200 10.1002/ajmg.a.35635 23165645
12. Growth hormone deficiency: an unusual presentation of floating harbor syndrome. Galli-Tsinopoulou A, Kyrgios I, Emmanouilidou E, Maggana I, Kotanidou E, Kokka P, Stylianou C, Hormones 2011 10 236 240 22001135
13. Precocious puberty in a girl with Floating-Harbor syndrome. Stagi S, Galluzzi F, Bindi G, Lapi E, Cecchi C, Salti R, Chiarelli F, J Pediatr Endocrinol Metab 2007 20 1333 1337 18341094
14. Not all Floating-Harbor syndrome cases are due to mutations in exon 34 of SRCAP. Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V, Hum Mut 2012 Sept 10, Epub ahead of print