Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

Clinical Dysmorphology

Volumn 15, Issue 4, 2006, Pages 211-212

  Mercer, Catherine ^a   Gilbert, Rodney ^a   Loughlin, Sam ^a   Foulds, Nicola ^a  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

Branchio oto renal; EYA1 mutation; Oto facio cervical

Indexed keywords

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CLINICAL FEATURE; EYA1 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GLOMERULUS FILTRATION RATE; HEARING LOSS; HUMAN; KARYOTYPE 46,XY; MALE; OTOFACIOCERVICAL SYNDROME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; THORAX RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BRANCHIAL REGION; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; EAR; HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PROTEIN TYROSINE PHOSPHATASES; PROTEIN-TYROSINE-PHOSPHATASE; SCAPULA; SYNDROME;

EID: 33748568458     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000204986.54366.7c     Document Type: Article

References (5)

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2. Dallapiccola B, Mingarelli R (1995). Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. J Med Genet 32:816-818.
3. Morris MC, Allanby CW, Toseland P, Haycock GB, Chantler C (1982). Evaluation of a height/plasma creatinine formula in the measurement of glomerular filtration rate. Arch Dis Child 57:611-615.
4. Rickard S, Parker M, Van'T Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M (2001). Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 108:398-403.
5. Soriano JR (2003). Branchio-oto-renal syndrome. J Nephrol 16:603-605.