IDENTIFICATION OF KIF21A MUTATIONS AS A RARE CAUSE OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 3 (CFEOM3)

A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype. -->
Popis souboru: STAMPA
Jazyk: English
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=od______3730::5309ad36ec80d1315f39aa7b64a18b2c
http://hdl.handle.net/11588/102535
Rights: CLOSED
Přírůstkové číslo: edsair.od......3730..5309ad36ec80d1315f39aa7b64a18b2c
Autor: YAMADA K, CHAN WM, ANDREWS C, BOSLEY TM, SENER EC, ZWAAN JT, MULLANEY PB, OZTURK BT, AKARSU AN, SABOL LJ, DEMER JL, SULLIVAN TJ, GOTTLOB I, ROGGENKAEMPER P, MACKEY DA, DE UZCATEGUI CE, UZCATEGUI N, BEN ZEEV B, TRABOULSI EI, MAGLI A, GAGLIARDI V, AWASTHI PATNEY S, VOGEL MC, RIZZO JF RD, ENGLE E.C., INVEST OPHTHALMOL VIS S.C.I. JUL, DE BERARDINIS, TERESA
Přispěvatelé: Yamada, K, Chan, Wm, Andrews, C, Bosley, Tm, Sener, Ec, Zwaan, Jt, Mullaney, Pb, Ozturk, Bt, Akarsu, An, Sabol, Lj, Demer, Jl, Sullivan, Tj, Gottlob, I, Roggenkaemper, P, Mackey, Da, DE UZCATEGUI, Ce, Uzcategui, N, BEN ZEEV, B, Traboulsi, Ei, Magli, A, DE BERARDINIS, Teresa, Gagliardi, V, AWASTHI PATNEY, S, Vogel, Mc, RIZZO JF, Rd, Engle, E. C., Jul, INVEST OPHTHALMOL VIS S. C. I.
Jazyk: angličtina
Rok vydání: 2004
Předmět:
Popis: PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.
Databáze: OpenAIRE
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