Novel <i>OTX2</i> mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family

You, Tian; Yuan, Liang; Liu, Shu-Qun; Li, Fēi; Zhao, Yan; Lv, Jingyu; Qiu, Guang-Rong; Li‐Ling, Jesse

doi:10.1111/j.1755-3768.2011.02345.x

Cited by 8 publications

(3 citation statements)

References 3 publications

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“…There is strong evidence that anophthalmia and microphthalmia have a substantial and overlapping genetic component. Recent studies indicate that ~50% of patients have mutations in several genes including but not limited to SOX2 , OTX2 , and PAX6 (You et al, ). Much less is known about nongenetic risk factors for anophthalmia and microphthalmia (Plaisancie, Calvas, & Chassaing, ; Williamson & FitzPatrick, ).…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009

Chambers

Agopian

Lewis

et al. 2018

American J of Med Genetics Pt A

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Anophthalmia and microphthalmia are a set of rare, yet severe, birth defects considered to be part of a spectrum of developmental ocular malformations ranging from smaller than average to completely absent eyes. Despite their clinical significance, little is known about the etiologies of these conditions. The goal of this study was to expand our understanding of the epidemiology of anophthalmia and microphthalmia. Data for this population-based assessment were obtained from the Texas Birth Defects Registry (TBDR) and Center for Health Statistics for the period 1999-2009. Descriptive analyses and estimates of birth prevalence and prevalence ratios (PR) were determined for this defect. There were 1,262 definite anophthalmia and microphthalmia patients identified in the TBDR, with an overall combined prevalence of 3.0 per 10,000 live births. More than half (55.7%) of the patients had at least one chromosome abnormality or syndrome. In addition, 92.4% of nonsyndromic patients (i.e., have no recorded chromosome abnormalities or syndromes) had at least one additional birth defect. After adjustment for multiple factors, the prevalence of nonsyndromic anophthalmia and microphthalmia was higher among mothers who had ≥2 previous fetal deaths (PR = 1.43, 95% confidence interval [CI]: 1.03-1.97) and among mothers with any reported diabetes (PR = 2.08, 95% CI: 1.49-2.90). Our results confirm that children with anophthalmia and microphthalmia frequently have genetic syndromes or are born with other major birth defects. Our findings add to the limited body of literature on anophthalmia and microphthalmia as well as help define subgroups of women who are more likely to have children with this malformation.

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Section: Introductionmentioning

confidence: 99%

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009

Chambers

Agopian

Lewis

et al. 2018

American J of Med Genetics Pt A

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show abstract

“…Many studies have shown that anophthalmia and microphthalmia may have a substantial and overlapping genetic component. Recent studies indicate that approximately 50% of patients have mutations in more than 20 genes, including but not limited to, SOX2, OTX2, and PAX6 (6). Much less is known about nongenetic risk factors for anophthalmia and microphthalmia (7,8).…”

Section: Discussionmentioning

confidence: 99%

Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression

Hou

Ding

et al. 2020

Ann Transl Med

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Background: Etiologies of congenital microphthalmia and anophthalmia are unclear and commonly thought to be homogenous. To test if risk factors are similar for these two diseases, we compared the risk factors between congenital microphthalmia and anophthalmia in a large Chinese cohort.Methods: A total of 347 patients with congenital microphthalmia or anophthalmia diagnosed by magnetic resonance imaging (MRI), computed tomography (CT) or ultrasound from 2011 to 2018 were enrolled.Patients' clinical information, used as potential risk factors, was retrospectively collected. A multivariable logistic regression model was used to estimate odds ratios (OR) and 95% confidence intervals (CI).Results: A total of 347 patients were affected by congenital microphthalmia or anophthalmia. A total of 324 cases were microphthalmia, and 23 cases were anophthalmia. Structural abnormalities, mother's age at initial pregnancy, whether the mother drinks, whether the mother was diseased during pregnancy and whether the father has systemic disease passed the univariate test. In the multivariable logistic regression model, whether the mother was diseased during pregnancy (OR =2.804, P=0.023) and whether the father had systemic disease (OR =4.795, P=0.027) are significant risk factors for anophthalmia over microphthalmia.Influenza or common cold infection accounted most of the mother's diseases during pregnancy.Conclusions: Mothers with diseases, mainly influenza or common cold infection, during pregnancy are more likely to have baby with anophthalmia than microphthalmia. Our study indicated that there might be different etiologies for anophthalmia and microphthalmia.

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“…For him, a mutation of the genes NF1, PAX6, SOX2 would be responsible for anophthalmia or microphthalmia. You [18] described a mutation of the OTX2 gene associated with anophthalmia and congenital microphthalmia in a Chinese family. Veronica [19] observed, in one patient, a mutation of the RAX2 gene responsible for unilateral anophthalmia.…”

Section: Discussionmentioning

confidence: 99%

Hereditary congenital anophthalmia:3 cases of children of the same family

Ia¹,

Tyc²,

Touré³

et al. 2017

New Front Ophthalmol

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Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family

Abstract: graphs and OCT images for grading and the limited number of participants. Epidemiological studies in old age often have problems with a low participation rate. While the age distribution was representative, there could be a bias towards more healthy and mobile persons.

Cited by 8 publications

References 3 publications

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009

Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009

Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression

Hereditary congenital anophthalmia:3 cases of children of the same family

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