A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 427-430

  Tekin, Mustafa ^a,c   Sirmaci, Asli ^a   Yüksel Konuk, Berrin ^a   Fitoz, Suat ^a   Sennaroǧlu, Levent ^b  

^a ANKARA UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c NONE   (Turkey)

Author keywords

Branchial anomalies; Cleft lip; Cochlear anomaly; Deafness; Deletion; Hearing loss; Inner ear malformation; Insertion; Mondini

Indexed keywords

AMINO ACID; DNA; NUCLEOTIDE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRANCHIO OCULO FACIAL SYNDROME; CASE REPORT; CHILD; CLEFT LIP; CONGENITAL MALFORMATION; DIMERIZATION; DNA BINDING; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; INNER EAR MALFORMATION; MULTICYSTIC DYSPLASTIC KIDNEY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DEFECT; TFAP2A GENE;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SUBSTITUTION; BRANCHIO-OTO-RENAL SYNDROME; CHILD, PRESCHOOL; CONGENITAL ABNORMALITIES; EAR, INNER; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; PROTEIN STRUCTURE, TERTIARY; TEMPORAL BONE; TRANSCRIPTION FACTOR AP-2;

EID: 61749091900     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32619     Document Type: Article

References (7)

1. Allanson J. 2004. Genetic hearing loss associated with external ear abnormalities. In:Toriello HV, Reardon W, Gorlin RJ, editors. Hereditary hearing loss and its syndromes. New York, NY: Oxford Univrsity Press. p 83-125.
2. Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boetler WD, Jones KL, Wilson MG. 1987. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet 27:943-951.
3. Hall BD, deLorimer A, Foster LH. 1983. A new syndrome of hemangiomatous branchial clefts with lip pseudoclefts, and unusual facial appearance. Am J Med Genet 14:135-138.
4. Lee WK, Root AW, Fenske N. 1982. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging and unusual facial appearance: A new syndrome with dominant transmission. Am J Med Genet 11:345-352.
5. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. 2008. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet 82:1171-1177.
6. Raveh E, Papsin BC, Forte V. 2000. Branchio-oculo-facial syndrome. Int J Pediatr Otorhinolaryngol 53:149-156.
7. Williams T, Tjian R. 1991. Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins. Science 251:1067-1071.