Genomes and Genes
Wai Man Chan
Affiliation: Harvard University
- Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Wai Man Chan
Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
BMC Genet 8:26. 2007..To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A...
- Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada
Department of Medicine Genetics, Enders 5, Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
Nat Genet 35:318-21. 2003..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...
- Expansion of the CHN1 strabismus phenotypeNoriko Miyake
Departments of Neurology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Invest Ophthalmol Vis Sci 52:6321-8. 2011..This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation...
- An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist
Department of Neurology, Boston Children s Hospital, Boston, MA, USA
Hum Mol Genet 21:5484-99. 2012..Together with previous studies, these findings highlight that β-tubulin isotypes function in both conserved and divergent ways to support proper human nervous system development...
- Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada
Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
Invest Ophthalmol Vis Sci 45:2218-23. 2004..This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3...
- A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew
Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA
Brain 136:522-35. 2013..The definition of the TUBB3 E410K syndrome will allow clinicians to identify affected individuals and predict the mutation based on clinical features alone...
- Two novel CHN1 mutations in 2 families with Duane retraction syndromeWai Man Chan
Department of Neurology, Children s Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA
Arch Ophthalmol 129:649-52. 2011..To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait...
- Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stallingLong Cheng
Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA FM Kirby Neurobiology Center, Boston Children s Hospital, Boston, MA 02115, USA Program in Genomics, Boston Children s Hospital, Boston, MA 02115, USA Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
Neuron 82:334-49. 2014..The interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton...
- RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermiaSherin Shaaban
Department of Neurology, Boston Children s Hospital, Boston, Massachusetts2F B Kirby Neurobiology Center, Boston Children s Hospital, Boston, Massachusetts3Program in Genomics, Boston Children s Hospital, Boston, Massachusetts4Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, Massachusetts5Dubai Harvard Foundation for Medical Research, Boston, Massachusetts
JAMA Ophthalmol 131:1532-40. 2013..Patients carrying RYR1 mutations are at high risk of developing malignant hyperthermia. Ophthalmologists should be familiar with these important clinical associations...
- Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndromeRavikumar Balasubramanian
Harvard Reproductive Endocrine Sciences Center R B, The Reproductive Endocrine Unit of the Department of Medicine R B, Massachusetts General Hospital, Boston, Massachusetts 02114 Harvard Medical School R B, S C, P B K, C A, W M C, E C E, Boston, Massachusetts 02115 Department of Neurology S C, P B K, C A, W M C, E C E, Kirby Neurobiology Center S C, C A, W M C, E C E, and Department of Ophthalmology S E M, E C E, Boston Children s Hospital, Boston, Massachusetts 02115 and Howard Hughes Medical Institute S C, C A, W M C, E C E, Chevy Chase, Maryland 20815
J Clin Endocrinol Metab 100:E473-7. 2015..All TUBB3 E410K subjects reported to date are sporadic cases...
- HOXA1 mutations are not a common cause of Möbius syndromeJessica K Rankin
Department of Neurology, Children s Hospital Boston, Boston, Massachusetts, USA
J AAPOS 14:78-80. 2010..Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population...
- Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear DefectsJong G Park
Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA Department of Neurology, Boston Children s Hospital, Boston, MA 02115, USA F M Kirby Neurobiology Center, Boston Children s Hospital, Boston, MA 02115, USA Department of Neurology, Harvard Medical School, Boston, MA 02115, USA Duke University School of Medicine, Durham, NC 27710, USA
Am J Hum Genet 98:1220-7. 2016..Thus, we present evidence that the primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development. ..
- Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL familyRaidah Al-Baradie
Department of Neurology, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
Am J Hum Genet 71:1195-9. 2002..SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development...
- Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield
Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
Cell 140:74-87. 2010..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
- Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndromeNoriko Miyake
Department of Medicine Genetics, Children s Hospital Boston, Boston, MA 02115, USA
Science 321:839-43. 2008..We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding...
- Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive developmentMax A Tischfield
Department of Medicine, Program in Genomics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Nat Genet 37:1035-7. 2005..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system...
- Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutationsTimothy Y Y Lai
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong
Invest Ophthalmol Vis Sci 48:5212-20. 2007..To evaluate the genotypic and phenotypic correlations of Bietti's crystalline dystrophy (BCD) in patients with the CYP4V2 gene by mutation screening and clinical and electrophysiological assessment...
- [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]Dan Yi Wang
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China
Zhonghua Yi Xue Za Zhi 85:1613-7. 2005..To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP...
- Persistent diplopia after retrobulbar anesthesiaDavid T L Liu
J Cataract Refract Surg 31:864; author reply 864-5. 2005
- Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen
Department of Neurology, University of California, Los Angeles, CA 90095, USA
Science 304:1509-13. 2004..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
- Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locusDavid A Mackey
Royal Victorian Eye and Ear Hospital, Melbourne, Australia
Hum Genet 110:510-2. 2002..0...