Literature DB >> 24138051

The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

Carolyn P Graeber1, David G Hunter, Elizabeth C Engle.   

Abstract

In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

Entities:  

Mesh:

Substances:

Year:  2013        PMID: 24138051      PMCID: PMC4098966          DOI: 10.3109/08820538.2013.825288

Source DB:  PubMed          Journal:  Semin Ophthalmol        ISSN: 0882-0538            Impact factor:   1.975


  66 in total

1.  Congenital fibrosis of the extraocular muscles; a report of six cases.

Authors:  R C LAUGHLIN
Journal:  Am J Ophthalmol       Date:  1956-03       Impact factor: 5.258

2.  Bilateral Duane syndrome. Occurrence in three successive generations.

Authors:  D Sevel; B S Kassar
Journal:  Arch Ophthalmol       Date:  1974-06

3.  Localization of a gene for Duane retraction syndrome to chromosome 2q31.

Authors:  B Appukuttan; E Gillanders; S H Juo; D Freas-Lutz; S Ott; R Sood; A Van Auken; J Bailey-Wilson; X Wang; R J Patel; C M Robbins; M Chung; G Annett; K Weinberg; M S Borchert; J M Trent; M J Brownstein; J T Stout
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

4.  Duane syndrome in the setting of chromosomal duplications.

Authors:  Sarah B Smith; Elias I Traboulsi
Journal:  Am J Ophthalmol       Date:  2010-10-08       Impact factor: 5.258

5.  Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Authors:  Cyril Amouroux; Marie Vincent; Patricia Blanchet; Jacques Puechberty; Anouck Schneider; Anne Marie Chaze; Manon Girard; Magali Tournaire; Christian Jorgensen; Denis Morin; Pierre Sarda; Geneviève Lefort; David Geneviève
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

6.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

Authors:  Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas M Bosley; Emin C Sener; Johan T Zwaan; Paul B Mullaney; Banu T Oztürk; A Nurten Akarsu; Louise J Sabol; Joseph L Demer; Timothy J Sullivan; Irene Gottlob; Peter Roggenkäemper; David A Mackey; Clara E De Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias I Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C Vogel; Joseph F Rizzo; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-07       Impact factor: 4.799

8.  A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Authors:  C Vincent; V Kalatzis; S Compain; J Levilliers; R Slim; F Graia; M L Pereira; A Nivelon; M F Croquette; D Lacombe
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

9.  Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Authors:  Noriko Miyake; John Chilton; Maria Psatha; Long Cheng; Caroline Andrews; Wai-Man Chan; Krystal Law; Moira Crosier; Susan Lindsay; Michelle Cheung; James Allen; Nick J Gutowski; Sian Ellard; Elizabeth Young; Alessandro Iannaccone; Binoy Appukuttan; J Timothy Stout; Stephen Christiansen; Maria Laura Ciccarelli; Alfonso Baldi; Mara Campioni; Juan C Zenteno; Dominic Davenport; Laura E Mariani; Mustafa Sahin; Sarah Guthrie; Elizabeth C Engle
Journal:  Science       Date:  2008-07-24       Impact factor: 47.728

10.  Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Authors:  W-M Chan; E I Traboulsi; B Arthur; N Friedman; C Andrews; E C Engle
Journal:  J Med Genet       Date:  2006-03       Impact factor: 6.318

View more
  18 in total

1.  Abnormal activity of neurons in abducens nucleus of strabismic monkeys.

Authors:  Mark M G Walton; Michael J Mustari; Christy L Willoughby; Linda K McLoon
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-11-20       Impact factor: 4.799

2.  The assembly of developing motor neurons depends on an interplay between spontaneous activity, type II cadherins and gap junctions.

Authors:  Karli Montague; Andrew S Lowe; Ana Uzquiano; Athene Knüfer; Marc Astick; Stephen R Price; Sarah Guthrie
Journal:  Development       Date:  2017-03-01       Impact factor: 6.868

3.  Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

Authors:  Carmine Ungaro; Rosalucia Mazzei; Teresa Sprovieri
Journal:  Neurol Sci       Date:  2018-09-14       Impact factor: 3.307

4.  Strabismus at Age 2 Years in Children Born Before 28 Weeks' Gestation: Antecedents and Correlates.

Authors:  Deborah K VanderVeen; Elizabeth N Allred; David K Wallace; Alan Leviton
Journal:  J Child Neurol       Date:  2015-09-08       Impact factor: 1.987

Review 5.  Nonhuman Primate Studies to Advance Vision Science and Prevent Blindness.

Authors:  Michael J Mustari
Journal:  ILAR J       Date:  2017-12-01

Review 6.  Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Authors:  Mary C Whitman; Elizabeth C Engle
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

7.  Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Authors:  Mary C Whitman; Caroline Andrews; Wai-Man Chan; Max A Tischfield; Steven F Stasheff; Francesco Brancati; Xilma Ortiz-Gonzalez; Sara Nuovo; Francesco Garaci; Sarah E MacKinnon; David G Hunter; P Ellen Grant; Elizabeth C Engle
Journal:  Am J Med Genet A       Date:  2015-12-06       Impact factor: 2.802

8.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Authors:  Sarah MacKinnon; Darren T Oystreck; Caroline Andrews; Wai-Man Chan; David G Hunter; Elizabeth C Engle
Journal:  Ophthalmology       Date:  2014-03-06       Impact factor: 12.079

Review 9.  Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.

Authors:  Mary C Whitman
Journal:  Annu Rev Vis Sci       Date:  2021-06-03       Impact factor: 7.745

10.  Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

Authors:  Gena Heidary; Sarah Mackinnon; Alexandra Elliott; Brenda J Barry; Elizabeth C Engle; David G Hunter
Journal:  J AAPOS       Date:  2019-09-18       Impact factor: 1.220

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.