Congenital Hypothyroidism in Peters Plus Syndrome

Kosaki, Rika; Kamiishi, Akiko; Sugiyama, Ryusuke; Kawai, Masahiro; Hasegawa, Tomonobu; Kosaki, Kenjiro

doi:10.1080/13816810600678170

Cited by 5 publications

(3 citation statements)

References 7 publications

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“…Even mild type I disease requires referral to pediatrician for a full workup. Previous studies including those investigating Peters plus syndrome phenotype 26–30 did not distinguish Peters type I from type II when reporting associated systemic findings. Of interest, Miao et al 31 reported systemic association, mostly growth retardation and congenital brain defects, in only 5 of 90 patients with congenital corneal opacity.…”

Section: Discussionmentioning

confidence: 95%

Phenotypic Spectrum of Peters Anomaly: Implications for Management

Elbaz

Ali

Strungaru

et al. 2021

Cornea

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The aim of this study was to characterize the wide phenotypic spectrum of Peters anomaly and to suggest a management algorithm based on disease phenotype. Methods:The charts of all children diagnosed with Peters anomaly between January 2000 and December 2013 were reviewed retrospectively. Anterior segment color photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy images were used to phenotype disease severity and to guide management. Disease severity was categorized to Peters anomaly type I and II according to lens involvement. Peters anomaly type I and II were further categorized from mild to severe disease according to the size and location of corneal opacity. Associated systemic findings were also documented.Results: Eighty eyes of 54 patients with Peters anomaly were identified, of which 28 (51.9%) had unilateral disease. Peters anomaly type I was present in 40 patients (57 eyes, 71.2%) and Peters anomaly type II in 14 patients (23 eyes, 28.8%). Nine eyes (11.3%) had phenotypic features that required observation only, 24 eyes (30%) were amenable to pupillary dilation, 43 eyes (53.8%) with large, dense central opacity required penetrating keratoplasty, and 4 eyes (5.0%) had no intervention because of very poor prognostic features. Associated systemic abnormalities occurred frequently in Peters anomaly (n = 20, 37.0%), with congenital heart defect being the most common morbidity (n = 10, 18.5%).Conclusions: Peters anomaly presents with a variable phenotype ranging from minimal peripheral corneal opacity to extensive iris and lens adhesions with dense central corneal opacity detrimental to vision. Management can be standardized and guided by an algorithm based on phenotypic severity. Systemic abnormalities should be ruled out, regardless of the severity of Peters anomaly.

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Section: Discussionmentioning

confidence: 95%

Phenotypic Spectrum of Peters Anomaly: Implications for Management

Elbaz

Ali

Strungaru

et al. 2021

Cornea

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“…The wide expression profile is consistent with the multitude of tissues known to be affected in Peters'-plus syndrome (see Table I). In addition to serving a function in those tissues, B3GTL seems to be involved in thyroid development and function, and an association between hypothyroidism and Peters'-plus syndrome has recently been reported (24). Interestingly, this gene also plays some role in malignancy, as its expression has been found to be upregulated in thyroid oncocytic tumours (25).…”

Section: The Genetic Defect In Peters'-plus Syndromementioning

confidence: 96%

Peters’-plus syndrome is a congenital disorder of glycosylation caused by a defect in the β1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

Heinonen

Mäki

2009

Annals of Medicine

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Genetic defects in glycosyltransferases are responsible for a number of developmental defects and diseases known as congenital disorders of glycosylation (CDGs). Peters'-plus syndrome, a rare autosomal recessive disorder, is now known to be a CDG. This syndrome is characterized by a specific malformation of the eye that includes corneal opaqueness and iridocorneal adhesions (Peters' anomaly). Affected individuals are short in stature and have short limbs, and may have cleft lip/palate, defects in the central nervous system, heart, and various other organs. The phenotype varies in severity, ranging from death in early childhood to a general delay in growth and development, and is often associated with mental retardation. The mutations responsible for Peters'-plus syndrome inactivate a beta1,3-glucosyltransferase whose function is to add a glucose moiety to O-linked fucose, forming a rare glucose-beta1,3-fucose disaccharide. This disaccharide modification is specific to thrombospondin type 1 repeats (TSRs), domains found in extracellular proteins that function in cell-cell and cell-matrix interactions and signalling. Some ninety human proteins contain TSRs, but thus far the disaccharide has been demonstrated on only thrombospondin 1, properdin, F-spondin, ADAMTS-13, and ADAMTSL-1. These proteins perform essential functions in embryonic development, tissue remodelling, angiogenesis, neurogenesis, and complement activation. Identification of the beta1,3-glucosyltransferase and its substrate proteins is a key step towards understanding their roles in human development, and to uncovering the molecular and cellular mechanisms underlying the clinical manifestations of Peters'-plus syndrome.

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“…In 2006, defects in the β-1,3-glucosyltransferase (B3GALTL) gene was identified as causative [215] . There have been a small number of reports on Peter's plus syndrome in consanguineous families [216][217][218][219] .…”

Section: Peters' Plus Syndromementioning

confidence: 99%

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

Gillespie

Lloyd²,

Black

2014

Hum Hered

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The formation of the anterior segment of the eye is an intricate process that is dependent to a large degree on the normal development of the lens. Despite intensive study of the role of well-described eye genes, many causes of lenticular and anterior segment anomalies remain elusive. The majority of genes implicated thus far act in an autosomal dominant manner. Autosomal recessive causes are less well described; their diagnosis has been hindered by technological limitations, extreme genetic heterogeneity, a lack of understanding of eye biology and the role of many genes within the genome. The opportunity for the discovery of extremely rare autosomal recessive causes of ocular abnormalities from the study of consanguineous families is large, particularly through the powerful combination of next-generation sequencing with autozygosity mapping. Having begun to overcome the genetic heterogeneity bottleneck, it is increasingly recognised that the interpretation of genetic variants and the association of novel genes with a particular phenotype remain challenging. Nonetheless, increasing understanding of the genetic and mutational basis of lens and anterior segment abnormalities will be of enormous value to our comprehension of eye disease(s). Further, it will improve our ability to accurately interpret putative disease-causing variants with the aim of providing more personalised patient care and avoiding lifelong visual loss in children.

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Congenital Hypothyroidism in Peters Plus Syndrome

Cited by 5 publications

References 7 publications

Phenotypic Spectrum of Peters Anomaly: Implications for Management

Phenotypic Spectrum of Peters Anomaly: Implications for Management

Peters’-plus syndrome is a congenital disorder of glycosylation caused by a defect in the β1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

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