Optic disc swelling in acromicric and geleophysic dysplasia

Moey, Lip Hen; Flaherty, Maree; Zankl, Andreas

doi:10.1002/ajmg.a.61268

Cited by 4 publications

(2 citation statements)

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“…In a previous study, two patients with acromicric and geleophysic dysplasia had been described with pseudopapilledema without any etiology. 17 Whereas these previous patients presented with headaches, our patients were asymptomatic. Pseudopapilledema is also described in Myhre syndrome, another acromelic dysplasia.…”

Section: Ophthalmologic Findingsmentioning

confidence: 50%

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Marzin

Thierry

Dancasius

et al. 2021

Genetics in Medicine

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Section: Ophthalmologic Findingsmentioning

confidence: 50%

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Marzin

Thierry

Dancasius

et al. 2021

Genetics in Medicine

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“…The rhGH treatment received by two of our patients confirmed its limited efficacy (de Bruin et al, 2016; Jin et al, 2017). Although the subtypes of acromelic dysplasia have been divided according to major disease‐specific symptoms such as ectopia lentis in WMS and cardiac valvular stenosis in GD, recent studies have shown that FBN1 mutations can lead to a mixed phenotype of both GD and AD (Cheng et al, 2017; Moey, Flaherty, & Zankl, 2019; Wang et al, 2020). Moreover, as these cases are identified during childhood, it could be too early to observe the full clinical spectrum (Marzin, Cormier‐Daire, & Dysplasia, 1993).…”

Section: Discussionmentioning

confidence: 99%

Separation in genetic pathogenesis of mutations in FBN1‐TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome

Sun

Zhou

et al. 2020

Birth Defects Research

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Mutations in the transforming growth factor β-binding protein-like domain 5 (TB5) region of FBN1 can lead to autosomal acromelic dysplasia and Marfan syndrome, which are two diseases with apparently opposite phenotypes. We identified six patients with acromelic dysplasia carrying either the previously reported mutations c.5284G > A (p.Gly1762Ser) and c.5096A > G (p. Tyr1699Cys) or the novel mutation c.5260G > A (p.Gly1754Ser). A systematic review of patients with mutations in the FBN1-TB5 region showed that acromelic dysplasia is caused only by in-frame amino acid substitutions. In contrast, truncating mutations in the FBN1-TB5 have been reported only in Marfan syndrome. Acromelic dysplasia subtypes that share symptoms with Marfan syndrome are associated with FBN1-TB5 disulfide disruptions, which are also commonly found in Marfan syndrome. These results suggest that the type and location of mutations in the FBN1-TB5 region determine the clinical spectrum of fibrillinopathy. K E Y W O R D S acromelic dysplasia, autosomal dominant, FBN1, fibrillin-1, Marfan syndrome 1 | INTRODUCTION FBN1 encodes fibrillin-1, an extracellular protein found abundantly in connective tissues. Mutations in † Feihong Luo and Zhengqing Qiu contributed equally to this work.

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Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review

Wang

Yang

Dong

et al. 2020

Molec Gen & Gen Med

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BackgroundAcromicric dysplasia is a rare heritable short‐stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutations in the FBN1 have been proposed as the predominant cause of both diseases.MethodsBy performing skin biopsy, X‐ray imaging, electrocardiography, as well as whole‐genome sequencing and Sanger sequencing, we diagnosed an 8‐year‐old Chinese boy as acromicric dysplasia with severe skin stiffness caused by a heterogeneous mutation in the FBN1.ResultsThe patient presented with skin tightness, wrist and ankle stiffness, short stature and limbs, several deformed joints in the extremities, cone‐shaped epiphyses, and distinct facial features. He also had a patent foramen ovale and frequent respiratory infections. Skin biopsy showed thickened dermis and excessive collagen aggregation. Alcian blue staining indicated dermal mucopolysaccharide deposition. Mutation analysis revealed a heterozygous missense mutation, c.5243G>A (p.Cys1748Tyr), in exon 42 of the FBN1.ConclusionThis is a report about acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation caused by a single hotspot mutation, further revealing the gene pleiotropy of FBN1.

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Optic disc swelling in acromicric and geleophysic dysplasia

Cited by 4 publications

References 13 publications

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Separation in genetic pathogenesis of mutations in FBN1‐TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome

Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review

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