Replication of the Recessive STBMS1 Locus but with Dominant Inheritance

Rice, Anthony J.; Nsengimana, J.; Simmons, Ian; Toomes, Carmel; Hoole, J.; Willoughby, Colin E.; Cassidy, Frances; Williams, G.; George, Nick; Sheridan, Eamonn; Young, Terri L.; Hunter, Tim I.; Barrett, Brendan T.; Elliott, David B.; Bishop, D. Timothy; Inglehearn, Chris F.

doi:10.1167/iovs.07-1631

Cited by 25 publications

(19 citation statements)

References 45 publications

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“…Well-recognized risk factors for strabismus include anisometropia and refractive error 11,12 , genetics 13,14 , older age of parents 1,15 , maternal cigarette smoking during pregnancy 15,16 , neurodevelopmental impairment 17,18 , low APGAR (Appearance, Pulse, Grimace, Activity, Respiration) scores 19 , craniofacial and chromosomal abnormalities 20,21 , in utero toxin exposure 22 , retinopathy of prematurity (ROP) 23,24 , and caesarian delivery 5,25 . For children who are born premature, there is debate in the literature regarding two other potential risk factors, birth weight (BW) and gestational age (GA) 26,27,28,29 (eTable 1) 1,2,15,23–25,29–33 .…”

mentioning

confidence: 99%

Effect of Gestational Age and Birth Weight on the Risk of Strabismus Among Premature Infants

et al. 2014

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IMPORTANCE Strabismus causes irreversible vision loss if not detected and treated early. It is unclear whether birth weight (BW) and gestational age (GA) are risk factors for strabismus.OBJECTIVE To estimate the effect of BW and GA on the likelihood of premature infants developing strabismus. DESIGN, SETTING, AND PARTICIPANTSIn this longitudinal cohort analysis, we monitored a group of premature children from birth to determine the proportion that developed strabismus and the timing of the first strabismus diagnosis. Multivariable Cox regression analyses assessed the relationships of BW and GA with the development of strabismus. Regression models were adjusted for other risk factors for strabismus, sociodemographic factors, and ocular comorbidities. The analysis included 38 055 otherwise healthy children born prematurely who were enrolled for more than 6 months in a nationwide US managed care network between 2001 and 2011 in communities throughout the United States.EXPOSURES Birth weight less than 2000 g or GA of 32 weeks or less. MAIN OUTCOMES AND MEASURESHazard ratios (HRs) for strabismus with 95% CIs. RESULTSOf 38 055 otherwise healthy children who were born prematurely, 583 received a diagnosis of strabismus later in life. The cumulative incidence of strabismus was 3.0% at 5 years. Controlling for GA and other covariates, infants born with BW less than 2000 g had a 61% increased hazard (HR, 1.61; 95% CI, 1.22-2.13) of developing strabismus. Controlling for BW and other covariates, there was no significant association between strabismus and GA (HR, 0.98; 95% CI, 0.69-1.38). Among premature infants with BW of less than 2000 g, a GA of 32 weeks or less conveyed no additional increased risk for developing strabismus relative to infants born after 32 weeks (HR, 1.27; 95% CI, 0.86-1.88). In contrast, among infants with a GA of 32 weeks or less, BW of less than 2000 g conveyed a 14-fold increase in the risk of strabismus relative to BW of 2000 g or more (HR, 14.39; 95% CI,.CONCLUSIONS AND RELEVANCE Independent of GA, very low BW conferred a large increase in strabismus risk among premature infants. In contrast, independent of BW, GA did not significantly affect the risk of strabismus. Updates to existing guidelines in the pediatric and ophthalmic literature should be considered, highlighting the importance of BW rather than GA and alerting clinicians about the need for careful monitoring of premature infants with low BW for strabismus.

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confidence: 99%

Effect of Gestational Age and Birth Weight on the Risk of Strabismus Among Premature Infants

et al. 2014

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“…Rice ve arkadaşları, 28 Ensemble veri bankasından 7 numaralı kromozom üzerindeki bölge değerlendirildiğinde, ilgili bölgede kodladığı protein bilinen 70 adet gen bulunmaktadır. Bu genlerin içerisinde doğrudan şaşılık etyolojisine katılabileceği düşünülen fonksiyonel aday gen görülememiştir.…”

Section: Discussionunclassified

Geniş Bir Konkomitan Şaşılık Ailesinde Gen Lokalizasyonunun Saptanması

Turan¹,

Şener²,

Sanaç³

2013

tjo

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ÖzetAmaç: Geniş bir ekzotropya ailesinde, konkomitan şaşılık ile bağlantılı gen bölgesini tanımlamak.Ge reç ve Yön tem: Genom boyu analizi bilinen, 17'sinde basit ekzotropya, 3'ünde intermitant ekzotropya bulunan, 3 kuşakta toplam 31 birey içeren bir aile çalışıldı. Genom boyu analizi verileri, pedigri analizi ile desteklenen ve eksik penetrans gösteren otozomal dominant kalıtım kalıbı varsayımı altında değerlendirildi. Pozitif lod (logarithm of odds) skor saptanan, üç farklı kromozomda (kromozom 7, 13 ve 18) 4 ayrı bölgeye detaylı haplotip analizi yapıldı. Sonuçlar:Haplotip analizi sonucunda 13. kromozom üzerindeki ilk bölge tam olarak dışlanabildi, ancak 2. bölge ailedeki yüksek homozigotluk nedeniyle dışlanamadı. Ayrıca, 18. kromozom üzerindeki 200000 baz büyüklüğündeki bir bölge de dışlanamadı. 7p14.1 lokusunda 9 megabazlık (Mb) bir bölgenin ise tüm aile bireylerinde ortak olarak kalıtıldığı saptandı. Aile bireylerinde gözlenen kalıtım ve crossing-over paterni dikkate alındığında, 7p14.1 bölgesi ailede şaşılığın kalıtımından sorumlu olan en muhtemel bölge olarak değerlendirildi. Tar t›fl ma: 7p14.1 lokusu literatürde 7. kromozom üzerinde bildirilen bölgelerden farklı bir yerdedir ve yeni bir lokustur. Bu çalışma, 3 kuşak boyunca kritik rekombinasyonların gösterilebildiği ilk çalışmadır ve özgül genin belirlenmesine yönelik gelecek çalışmalar için ışık tutacaktır. (Turk J Ophthalmol 2013; 43: 407-12) Anah tar Ke li me ler: Genetik, haplotip analizi, şaşılık Sum mary Pur po se: To define the gene locus related with concomitant strabismus in a large exotropia family. Ma te ri al and Met hod:A three-generation family including 31 individuals among which 17 members had basic exotropia and 3 members had intermittent exotropia with known genome-wide analysis was investigated. The data of genome-wide analysis was evaluated under the assumed pattern of autosomal dominant inheritance with incomplete penetrance which was supported by pedigree analysis. Detailed haplotype analysis of four regions on 3 chromosomes (chromosome 7, 13 and 18) which had positive lod scores in previous studies was performed. Re sults:The first region on chromosome 13 was excluded regarding haplotype analysis, but the second region could not be excluded because of the high homozigocity in the family. The region which had 200.000 bases on chromosome 18 could not be excluded as well. The region which had 9 Mb on 7p14.1 was common for all family members. 7p14.1 locus is considered as the most likely region responsible for the inheritance of strabismus in regard with familial inheritance and crossing-over pattern.Dis cus si on: The 7p14.1 locus identified in this study is a novel site and it is different from the regions on chromosome 7 which were reported in previous studies. To the best of our knowledge, this is the first study demonstrating the presence of critical recombinations across three generations and will shed light for further studies which will define the specific gene. (Turk J Ophthalmol 2013; 43: 407-12)

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“…Supporting this notion, in the family linked to STBMS1 by Rice et al, two of the five affected individuals had accommodative esotropia, while the other three had infantile esotropia. 9 The results of these linkage analysis studies demonstrate that in a minority of families with a strong history of strabismus, a unique genetic locus can be identified, which varies with ethnicity.…”

Section: Linkage Analysismentioning

confidence: 99%

“…It is highly unlikely that all 33 of these sites are responsible for the strabismus trait, and further work will be required to identify the specific culprit. 9 While STBMS1 is associated with strabismus in European populations, a number of other loci have been identified in other ethnicities. In Japan, Matsuo and colleagues recruited 55 families in which comitant strabismus was present in at least two family members.…”

Section: Linkage Analysismentioning

confidence: 99%

An Update on the Genetics of Comitant Strabismus

Kruger

Mansouri

Cestari

2013

Seminars in Ophthalmology

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Genetics play a significant role in the development of comitant strabismus and elucidating the relevant mechanisms that cause it may lead to the development of new therapeutic options. The genetics of strabismus are complex and involve the interactions of multiple genes. This article reviews the progress that has been made in the understanding of the genetic causes of comitant strabismus including linkage studies that have identified a variety of candidate sites, RNA and protein studies that have identified genes with altered regulation, and a study that establishes a role for genetic imprinting in comitant strabismus.

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Replication of the Recessive STBMS1 Locus but with Dominant Inheritance

Cited by 25 publications

References 45 publications

Effect of Gestational Age and Birth Weight on the Risk of Strabismus Among Premature Infants

Effect of Gestational Age and Birth Weight on the Risk of Strabismus Among Premature Infants

Geniş Bir Konkomitan Şaşılık Ailesinde Gen Lokalizasyonunun Saptanması

An Update on the Genetics of Comitant Strabismus

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