HOXA1 mutations are not a common cause of Duane anomaly

Tischfield, Max A.; Chan, Wai‐Man; Grunert, Jann-Frederik; Andrews, Caroline; Engle, Elizabeth C.

doi:10.1002/ajmg.a.31167

Cited by 22 publications

(11 citation statements)

References 19 publications

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“…Evaluation of HOXA1 in DS and Moebius patients, however, did not reveal any mutations, indicating that HOXA1 mutations are not a major cause of simplex DS 38 or Moebius syndrome. 39 Table 2b summarizes the clinical differences between ABDS and BSAS.…”

Section: Methodsmentioning

confidence: 82%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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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).

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Section: Methodsmentioning

confidence: 82%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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“…Only 1 genetic locus for familial DRS has been established by linkage analysisVthe DURS2 locus on 2q31. 5,6 Affected individuals commonly have bilateral involvement and associated vertical movement anomalies. The responsible gene, CHN1, is involved in ocular motor axon path finding in the development of cranial nerve VI and, to a lesser extent, cranial nerve III.…”

Section: Duane Retraction Syndromementioning

confidence: 99%

“…5 The diagnosis of DRS is essentially based on clinical examination, which is not difficult when patients present clinically with characteristic signs. It consists of a congenital abduction deficit accompanied by retraction of the globe on attempted adduction and by upshoots or downshoots of the affected eye on adduction.…”

Section: Duane Retraction Syndromementioning

confidence: 99%

Imaging Findings in Congenital Cranial Dysinnervation Disorders

Ferreira

Amaral²,

Gonçalves³

et al. 2011

Topics in Magnetic Resonance Imaging

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In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

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“…Three nonsynonymous coding sequence variants were found in exon 1, all of which we had previously identified as polymorphisms in controls and in individuals with Duane syndrome7 (Table 1). Although these changes are polymorphisms, it is still unknown what effect, if any, they may have on HOXA1 function.…”

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confidence: 89%

HOXA1 mutations are not a common cause of Möbius syndrome

Rankin

Andrews

Chan

et al. 2010

Journal of American Association for Pediatric Ophthalmology and

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The HOXA1-related syndromes result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population.HOXA1-related syndromes include the Bosley-Salih-Alorainy syndrome (BSAS) identified in Saudi Arabian and Turkish families and the Athabascan brainstem dysgenesis syndrome (ABDS) identified in Native American families. 1,2 Both result from autosomal recessive truncating mutations in the homeobox transcription factor, HOXA1. The HOXA1-related syndrome phenotype is variable. The most common features in affected individuals are limited horizontal gaze (diagnosed as Duane syndrome in BSAS and horizontal gaze palsy in ABDS patients) and sensorineural deafness; facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery and/or conotruncal heart defects also occur. 1,2 The minimal diagnostic criteria for Möbius syndrome, which is also phenotypically heterogeneous, are nonprogressive facial weakness and impaired ocular abduction. 3,4 Affected individuals can also have mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities. 3 Approximately 20% of reported individuals with the HOXA1-related syndromes have both facial weakness and horizontal gaze palsy and thus meet diagnostic Reprint requests: Elizabeth C. Engle, MD, CLS14075 Children's Hospital Boston 300, Longwood Ave., Boston, MA 02115 (Elizabeth.engle@childrens.harvard.edu). Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. We asked whether, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, individuals with Möbius synd...

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HOXA1 mutations are not a common cause of Duane anomaly

Cited by 22 publications

References 19 publications

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Imaging Findings in Congenital Cranial Dysinnervation Disorders

HOXA1 mutations are not a common cause of Möbius syndrome

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