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Yamada K, Andrews C, Chan WM, McKeown
CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe
M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris
L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries
B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC,
Katowitz J, Goldstein
SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky
MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper
P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini
P,
Newlin A, Demer JL, Engle EC.
Department of Medicine (Genetics), Enders 5, Children's
Hospital Boston, 300
Longwood Avenue, Boston, Massachusetts 02115, USA.
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1;
OMIM #135700) is
an autosomal dominant strabismus disorder associated with
defects of the
oculomotor nerve. We show that individuals with CFEOM1 harbor
heterozygous
missense mutations in a kinesin motor protein encoded by KIF21A.
We identified
six different mutations in 44 of 45 probands. The primary
mutational hotspots
are in the stalk domain, highlighting an important new role
for KIF21A and its
stalk in the formation of the oculomotor axis.
Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.
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