Frontometaphyseal dysplasia and keloid formation without FLNA mutations

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1215-1222

  Basart, Hanneke ^a   van de Kar, Annekatrien ^a   Adès, Lesley ^b   Cho, Tae Joon ^c   Carter, Erin ^d   Maas, Saskia M ^a   Wilson, Louise C ^e   van der Horst, Chantal M A M ^a   Wade, Emma M ^f   Robertson, Stephen P ^f   Hennekam, Raoul C ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Seoul National University College of Medicine   (South Korea)

^d HOSPITAL FOR SPECIAL SURGERY   (United States)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

Cleft palate; Filamin A; Frontometaphyseal dysplasia; Hypertrophic scar; Intellectual disability; Keloid; Otopalatodigital spectrum disorder; Robin sequence

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONGENITAL MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DYSPLASIA; EAR SURGERY; ENDOPHTHALMITIS; EXTERNAL OTITIS; FEMALE; FLNA GENE; FRONTOMETAPHYSEAL DYSPLASIA; GENE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; KELOID; MALE; PATIENT ASSESSMENT; PHENOTYPE; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; SCAR FORMATION; TRACHEA STENOSIS; ABNORMALITIES; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 22; CHROMOSOME DUPLICATION; FOREHEAD; GENE EXPRESSION; GENETICS; MUTATION; PATHOLOGY; SEX DIFFERENCE;

FILAMIN; FLNA PROTEIN, HUMAN;

ADOLESCENT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; FEMALE; FILAMINS; FOREHEAD; GENE EXPRESSION; HUMANS; INTELLECTUAL DISABILITY; KELOID; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PIERRE ROBIN SYNDROME; SEX FACTORS; TRACHEAL STENOSIS;

EID: 84929955191     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37044     Document Type: Article

References (11)

1. Abarca H, Mellgren AEC, Trubnykova M, Haugen OH, Høvding G, Tveit KS, Houge G, Bredrup C, Hennekam RC. 2014. Ocular pterygium-digital keloid dysplasia. Am J Med Genet Part A 164A:2901-2907.
2. Hennekam RC. 2007. What to call a syndrome. Am J Med Genet Part A 143A:1021-1024.
3. Hennekam RC, Allanson JE, Krantz ID. 2010. Gorlin's syndromes of the head and neck. New York: Oxford University Press.
4. Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. 2007. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings. Am J Med Genet Part A 143A:1120-1125.
5. Robertson SP. 2005. Filamin A: Phenotypic diversity. Curr Opin Genet Dev 15:301-307.
6. Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A. 2006. Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity. Am J Med Genet Part A 140A:1726-1736.
7. Robertson SP, Twigg SRF, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491.
8. Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. 2010. Terminal osseous dysplasia is causes by a single recurrent mutation in the FLNA gene. Am J Hum Genet 87:146-153.
9. van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJM, Hennekam RC. 2014. Keloids in Rubinstein-Taybi syndrome: A clinical study. Br J Dermatol 171:615-621.
10. Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. 2000. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90:407-422.
11. Zenker M, Nährlich L, Sticht H, Reis A, Horn D. 2006. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Am J Med Genet Part A 140A:1069-1073.