AnatomyDiseasesChemicals and Drugs
Duane Retraction SyndromeChimerin 1Oculomotor Muscles
OcularCause Duane's retractiAdductionDuane'sTimes on human genesGlobe retractionDURS28q13ChromosomeAnomalyChimerinDisordersMutationHeterogeneousPathogenicBrainstem Dysgenesis SyndromeMissense mutationsSensorineural deafnessWildervanckProteinClinicallyFeatures of the syndromeEyeballHeterozygousAUTOSOMAL RECESSIVEGeneticRadialDuplicationIndividuals1896LATERALCranialSALL4AbsenceAnomaliesSocketTemporal
Ocular4
  • Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. (mendelian.co)
  • The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome. (mendelian.co)
  • Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome ( OMIM ), caused by mutation in the TBX5 gene ( OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects ( Kohlhase, 2003 ). (mendelian.co)
  • The Acro-Renal-Ocular Syndrome (AROS) is one of the phenotypes associated with mutations in SALL4. (medicalalgorithms.com)
Cause Duane's retracti1
  • Heterozygous missense mutations in this gene cause Duane's retraction syndrome 2 (DURS2). (wikipedia.org)
Adduction6
  • [ 7 ] Type A corresponded to limited abduction and less limited adduction (as described originally by Duane). (medscape.com)
  • It is characterized by co-contraction of horizontal recti upon attempted adduction, causing globe retraction along with variable amounts of upshoots or downshoots. (medscape.com)
  • It may have limited abduction or adduction or both and presents as esotropic, exotropic, or orthotropic Duane. (medscape.com)
  • People with Duane syndrome have a limited and sometimes absent ability to move their eye outward toward the ear (ie, abduction), and in most cases, they have a limited ability to move the eye inward toward the nose (ie, adduction). (medscape.com)
  • The essential features are globe retraction upon adduction with narrowing of the lid fissure, and some limitation of abduction. (arizona.edu)
  • A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. (lookformedical.com)
Duane's3
  • Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. (elsevierpure.com)
  • Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome . (arizona.edu)
  • Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome. (bionity.com)
Times on human genes2
  • This domain occurred 39 times on human genes ( 74 proteins). (umbc.edu)
  • This domain occurred 42 times on human genes ( 80 proteins). (umbc.edu)
Globe retraction1
  • EMG studies have documented simultaneous activation of the two muscles which likely accounts for at least some of the globe retraction. (arizona.edu)
DURS23
  • Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. (elsevierpure.com)
  • Individuals having Duane Retraction Syndrome 2 (DURS2) ( 604356 ) are often found in autosomal dominant pedigrees also. (arizona.edu)
  • To date, five CFS loci have been mapped (FEOM1, FEOM2, FEOM3, DURS1 and DURS2) 6-10 , but no genes have been identified. (johnshopkins.edu)
8q131
  • No specific mutant gene has been found but a locus has been identified at 8q13. (arizona.edu)
Chromosome2
  • Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
  • High resolution array-CGH analysis identified a 4.2 Mb de novo interstitial duplication of the 8q12.1-q12.3 chromosome region in a boy with developmental delay, dysmorphic features, type 3 Duane anomaly. (biomedcentral.com)
Anomaly6
  • Drrs Is also known as dr syndrome, acrorenoocular syndrome, duane anomaly with radial ray abnormalities and deafness, okihiro syndrome. (mendelian.co)
  • The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. (biomedcentral.com)
  • The presence of Duane anomaly in four out of five described patients with a 8q12 duplication definitely rules against the possibility of its being a chance finding unrelated to the imbalance and points toward a pathogenic role. (biomedcentral.com)
  • Type 1 Duane anomaly has been reported in three out of the four described cases, the exception being the child with the smaller duplication. (biomedcentral.com)
  • Here we report on a further child who carries a de novo 4.2 Mb duplication of the region 8q12.1-q12.3 presenting with developmental delay, dysmorphic features, and type 3 Duane anomaly in order to refine the clinical presentation of the 8q12 microduplication syndrome and to contribute to genotype-phenotype correlation. (biomedcentral.com)
  • Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. (bvsalud.org)
Chimerin2
  • Chimerin 1 (CHN1), also known as alpha-1-chimerin, n-chimerin, is a protein which in humans is encoded by the CHN1 gene. (wikipedia.org)
  • GeneReviews/NCBI/NIH/UW entry on Duane syndrome Chimerin+1 at the U.S. National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine, which is in the public domain. (wikipedia.org)
Disorders4
  • Homozygous loss-of-function mutations in the HOXA1 gene result in disorders with variable phenotypic expressivity that span a spectrum. (nih.gov)
  • Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. (nih.gov)
  • Dr. State's lab has played a leading role in demonstrating the contribution of rare and de novo variation to autism spectrum disorders (ASD), Tourette disorder (TD), and brain malformation syndromes. (ucsf.edu)
  • The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS) 2 . (johnshopkins.edu)
Mutation3
  • Genetic Testing is also available to search for the presence of the loss-of-function non-sense mutation in the HOXA1 gene. (eyewiki.org)
  • In most cases, the disease is autosomal dominantly inherited and the patients often have a mutation in genes encoding the muscle contraction apparatus. (biomedcentral.com)
  • This study enriches the clinical phenotype and mutation spectrum of the PTPN11 gene in the Chinese population. (bvsalud.org)
Heterogeneous3
  • Duane retraction syndrome (DRS) is a highly heterogeneous eye-movement disorder that in a quarter to half of cases is associated with additional congenital defects and/or genetic syndromes [ 5 ]. (biomedcentral.com)
  • Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. (arizona.edu)
  • This is a heterogeneous group of syndromes resulting from aberrant wiring of motor nerves in the head muscles [ 6 , 26 ], and not from malformations of the eye itself. (biomedcentral.com)
Pathogenic3
  • Objective: To analyze the clinical characteristics of patients with Möbius syndrome (MBS) and to explore likely pathogenic genes. (bvsalud.org)
  • The peripheral venous blood of all patients and their nuclear family members was collected, the genomic DNA was extracted, and the pathogenic gene variations that may lead to MBS were identified by whole exome sequencing and bioinformatics analysis. (bvsalud.org)
  • METHODS@#Thirteen hot-spot mutations in four most common pathogenic genes were screened among 20 934 neonates from March 2017 to December 2019. (bvsalud.org)
Brainstem Dysgenesis Syndrome2
  • Athabascan Brainstem Dysgenesis Syndrome (ABDS) is a very rare genetic syndrome affecting the brainstem of the central nervous system that consists of congenital horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and other variable features that can include facial paresis. (eyewiki.org)
  • Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. (nih.gov)
Missense mutations1
  • Conclusion: Missense mutations in the PTPN11 gene may be the cause of the disease in the three deaf families. (bvsalud.org)
Sensorineural deafness1
  • however, this was ultimately found to be a distinct syndrome with characteristic features such as sensorineural deafness, horizontal gaze palsy and central hypoventilation not seen in typical Möbius syndrome. (eyewiki.org)
Wildervanck2
  • It is also seen as part of other syndromes such as Goldenhar ( 164210 ), and Wildervanck ( 314600 ). (arizona.edu)
  • El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. (bvsalud.org)
Protein3
  • This gene encodes GTPase-activating protein for p21-rac and a phorbol ester receptor. (wikipedia.org)
  • [2] [3] Genetically, patients with ABDS have been found to be homozygous for 2 loss-of-function non-sense mutations in the HOXA1 gene that lead to a truncated protein product. (eyewiki.org)
  • The retraction is dependent on the contractile protein thrombosthenin. (lookformedical.com)
Clinically1
  • Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. (biomedcentral.com)
Features of the syndrome1
  • Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome. (biomedcentral.com)
Eyeball1
  • Often, when the eye moves toward the nose, the eyeball also pulls into the socket (ie, retraction), and the eye opening narrows. (medscape.com)
Heterozygous1
  • Further analysis of five abnormal cases revealed that 3 of them have carried compound heterozygous mutations of GJB2 gene, and 2 were due to compound heterozygous variants of the CDH23 gene. (bvsalud.org)
AUTOSOMAL RECESSIVE1
  • Pedigrees consistent with autosomal recessive inheritance have also been reported but the responsible genes are unknown. (arizona.edu)
Genetic2
  • Possible genetic bottleneck shared by both the Navajo and Apache tribes may have attributed to onset of disease in this population when the total population decreased to allow for rare alleles to become more prevalent in the gene pool. (eyewiki.org)
  • Based on clinical manifestations and genetic test results, proband 1 was diagnosed with multiple lentigines Noonan syndrome, and probands 2 and 3 were diagnosed with Noonan syndrome. (bvsalud.org)
Radial2
  • Duane-radial ray syndrome (deletion/duplication analysis on SALL4 gene). (mendelian.co)
  • Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome ( 607323 ). (arizona.edu)
Duplication1
Individuals1
  • Most individuals with Duane syndrome are diagnosed by age 10 years. (medscape.com)
18961
LATERAL2
  • In Duane syndrome, the sixth cranial nerve that controls the lateral rectus muscle (the muscle that rotates the eye out toward the ear) does not develop properly. (medscape.com)
  • At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. (arizona.edu)
Cranial1
  • [3] Mouse model studies have demonstrated that this gene is responsible for the proper development of hindbrain, cranial nerves, inner ear, skull, and craniofacial features. (eyewiki.org)
SALL41
  • Duane retraction syndrome (sequence analysis of SALL4 gene). (mendelian.co)
Absence2
  • In the absence of other anomalies, it is called isolated Duane syndrome. (arizona.edu)
  • An important gene associated with Childhood Absence Epilepsy is PCDH19 (Protocadherin 19), and among its related pathways/superpathways are CREB Pathway and Sweet Taste Signaling. (silexon.tech)
Anomalies2
  • Duane syndrome (DS), or Duane retraction (or co-contraction) syndrome (DRS), is a congenital restrictive strabismus that can occur either as an isolated entity or in conjunction with other congenital anomalies. (medscape.com)
  • Microduplication of 8q12, encompassing the CHD7 gene, which is mutated or deleted in CHARGE syndrome, has recently been identified to result in a novel multiple congenital anomalies syndrome. (biomedcentral.com)
Socket1
  • Thus, co-contraction of the muscles takes place, limiting the amount of movement achievable and also resulting in retraction of the eye into the socket. (bionity.com)
Temporal3
  • These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease. (bvsalud.org)
  • Recent work has contributed to the identification of dozens of ASD risk genes, the identification of the first high confidence TD genes, and has utilized systems biological approaches to characterize the spatial and temporal convergence of autism genes in developing human brain. (ucsf.edu)
  • Methods: From January 2019 to January 2020, three deaf children and family members were collected for medical history, physical examination, audiology evaluation, electrocardiogram and cardiac color Doppler ultrasound, temporal bone CT examination, and peripheral blood DNA was obtained for high-throughput sequencing of deafness genes. (bvsalud.org)