First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

Diel, Heidi; Ding, Can; Grehn, Franz; Chronopoulos, Panagiotis; Bartsch, Oliver

doi:10.1186/s12886-020-01788-0

Cited by 11 publications

(19 citation statements)

References 20 publications

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“…A family history of childhood glaucoma seemed more frequent in the mutation groups, especially in secondary childhood glaucoma and post-cataract surgery cases. Interestingly, 11/12 mutations could be detected in at least one parent, which means that in the presented sample only one de-novo mutation was found (SOX11-related Coffin–Siris syndrome [ 17 ]). Bilateral disease seemed to be more common in the mutation groups.…”

Section: Resultsmentioning

confidence: 98%

“…The secondary childhood glaucoma cases showed diverse phenotypes and genotypes ( n = 8): Peters anomaly was linked with CYP1B1 mutations in two cases (25%), no mutation was found in one case (13%). A SOX11 variant was identified in one patient (13%) with Coffin–Siris syndrome [ 17 ]. Axenfeld–Rieger anomaly was associated with a FOXC1 mutation in one case (13%), Sclerocornea was seen in a patient with a GJA8 alteration (13%) and Weill–Marchesani syndrome was diagnosed in a patient presenting with an LTBP2 change (12.5%).…”

Section: Resultsmentioning

confidence: 99%

“…The group of non-acquired systemic diseases included a Weill–Marchesani case with LTBP2 mutation, a patient with Coffin–Siris syndrome with SOX11 mutation [ 17 ], and one case with Sturge–Weber syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…We recently reported a case of SOX11 (sex-determining region Y-related high-mobility-group box transcription factor 11)-related Coffin–Siris syndrome with the first observation of childhood glaucoma [ 17 ] presenting with maximal intraocular pressure of 43 mmHg, microcornea with central opacity, aniridia and cataract. Few cases of anterior segment dysgenesis are described in the literature, which is suggested to occur as a result of incomplete separation of the lens vesicle from the surface ectoderm, similar to Peter’s anomaly [ 59 ].…”

Section: Discussionmentioning

confidence: 99%

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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

Stingl

Diederich

Diel

et al. 2021

JCM

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Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype–genotype relationship in a German childhood glaucoma cohort. Forty-nine eyes of 29 children diagnosed with childhood glaucoma were prospectively included in the registry. Besides medical history, non-genetic risk factor anamnesis and examination results, genetic examination report was obtained (23 cases). DNA from peripheral blood or buccal swab was used for molecular genetic analysis using a specific glaucoma gene panel. Primary endpoint was the distribution of causative genetic mutations and associated disorders. Median age was 1.8 (IQR 0.6; 3.8) years, 64% participants were female. Secondary childhood glaucoma (55%) was more common than primary childhood glaucoma (41%). In 14%, parental consanguinity was indicated. A mutation was found in all these cases, which makes consanguinity an important risk factor for genetic causes in childhood glaucoma. CYP1B1 (30%) and TEK (10%) mutations were found in primary childhood glaucoma patients. In secondary childhood glaucoma cases, alterations in CYP1B1 (25%), SOX11 (13%), FOXC1 (13%), GJA8 (13%) and LTBP2 (13%) were detected. Congenital cataract was associated with variants in FYCO1 and CRYBB3 (25% each), and one case of primary megalocornea with a CHRDL1 aberration. Novel variants of causative genetic mutations were found. Distribution of childhood glaucoma types and causative genes was comparable to previous investigated cohorts. This is the first prospective study using standardized forms to determine phenotypes and non-genetic factors in childhood glaucoma with the aim to evaluate their association with genotypes in childhood glaucoma.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

Stingl

Diederich

Diel

et al. 2021

JCM

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“…The literature review of all SOX11 ‐related CSS cases harboring disease‐causing variants did not identify individuals with sensorineural hearing loss or cochlear nerve deficiency. (Diel et al, 2021; Hempel et al, 2016; Khan et al, 2018; Tsurusaki et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome

Alburaiky¹,

Taylor²,

O’Grady

et al. 2022

American J of Med Genetics Pt A

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The phenotypic spectrum of SOX11-related Coffin-Siris syndrome (CSS) is expanding with reports of new associations. SOX11 is implicated in neurogenesis and inner ear development. Cochlear nerve deficiency, absence or hypoplasia, is commonly associated with cochlear canal stenosis or with CHARGE syndrome, a monogenic condition that affects inner ear development. SOX11 is a transcription factor essential for neuronal identity, highly correlated with the expression of CHD7, which regulates SOX11. We present two unrelated probands, each with novel de novo SOX11 likely pathogenic variants and phenotypic manifestations of CSS including global developmental delay, growth deficiency, and hypoplastic nails. They have unilateral sensorineural hearing loss due to cochlear nerve deficiency confirmed on MRI. SOX11 is implicated in sensory neuron survival and maturation. It is highly expressed in the developing inner ear. Homozygous ablation of SOX11 in a mouse model resulted in a reduction in sensory neuron survival and decreased axonal growth. A heterozygous knockout mice model had hearing impairment with grossly normal inner ear structures like the two probands reported. We propose cochlear nerve deficiency as a new phenotypic feature of SOX11-related CSS. Magnetic resonance imaging is useful in delineating the cochlear nerve deficiency and other CSS-related brain malformations.

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Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review

Wu,

Tang,

et al. 2024

American J of Med Genetics Pt A

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De novo germline variants of the SRY‐related HMG‐box 11 gene (SOX11) have been reported to cause Coffin–Siris syndrome‐9 (CSS‐9), a rare congenital disorder associated with multiple organ malformations, including ear anomalies. Previous clinical and animal studies have found that intragenic pathogenic variant or haploinsufficiency in the SOX11 gene could cause inner ear malformation, but no studies to date have documented the external ear malformation caused by SOX11 deficiency. Here, we reported a Chinese male with unilateral microtia and bilateral sensorineural deafness who showed CSS‐like manifestations, including dysmorphic facial features, impaired neurodevelopment, and fingers/toes malformations. Using trio‐based whole‐exome sequencing, a de novo missense variant in SOX11 (NM_003108.4: c.347A>G, p.Y116C) was identified and classified as pathogenic variant as per American College of Medical Genetics guidelines. Moreover, a systematic search of the literature yielded 12 publications that provided data of 55 SOX11 intragenic variants affecting various protein‐coding regions of SOX11 protein. By quantitatively analyzing phenotypic spectrum information related to these 56 SOX11 variants (including our case), we found variants affecting different regions of SOX11 protein (high‐mobility group [HMG] domain and non‐HMG regions) appear to influence the phenotypic spectrum of organ malformations in CSS‐9; variants altering the HMG domain were more likely to cause the widest range of organ anomalies. In summary, this is the first report of CSS with external ear malformation caused by pathogenic variant in SOX11, indicating that the SOX11 gene may be not only essential for the development of the inner ear but also critical for the morphogenesis of the external ear. In addition, thorough clinical examination is recommended for patients who carry pathogenic SOX11 variants that affect the HMG domain, as these variants may cause the widest range of organ anomalies underlying this condition.

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First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

Cited by 11 publications

References 20 publications

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome

Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review

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