Peters Plus Syndrome: Another Way to See a Known Syndrome

Grande, Elisabetta; Ciabattoni, Serena; Andreucci, Elena; Romano, Chiara; Capecchi, Gianluca; Ferranti, Silvia; Grosso, Salvatore

doi:10.4172/2157-7412.1000320

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…[345] Associated findings that may be identified on a prenatal high-resolution sonography include congenital heart defects, genitourinary abnormalities, and structural brain malformations. [3456] Even though, these findings are nonspecific, but are highly suggestive of the diagnosis, especially with a positive family history. Therefore, it should alert the obstetrician and help to counsel the parents accordingly.…”

Section: Discussionmentioning

confidence: 99%

Peter plus syndrome: A neurosurgeon’s perspective

et al. 2019

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Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon’s perspective to PPS in this report. A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life. Screening craniospinal magnetic resonance imaging revealed mild ventriculomegaly, cavum septum pellucidum, cavum velum interpositum, vermian hypoplasia, and normal spine. Cytogenetic analysis showed a mutation in the beta-1,3-galactosyltransferase-like gene on chromosome 13. Clinical picture in our patient suggested the diagnosis of PPS. Parents often seek ophthalmological consultation due to visual impairment predominantly, and this syndrome largely remains unknown among neurosurgeons. Nonetheless, babies with PPS may present with neurological symptoms such as seizures, spastic diplegia, tinnitus, or hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure. Therefore, the role of neurosurgeon becomes crucial in managing these cases.

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Section: Discussionmentioning

confidence: 99%

Peter plus syndrome: A neurosurgeon’s perspective

et al. 2019

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“…Peters Plus syndrome (MIM 261540) is a rare disorder with autosomal-recessive inheritance involving systemic and ocular abnormalities characterized by short stature, Genitourinary tract and anterior chamber abnormalities, and distinctive facial features like cleft lip and palate. (1-3) Of the abnormality reported in Peters plus syndrome, Peters anomaly is regarded as the most common ocular disorder which involves the thinning and clouding of the cornea and iridocorneal adhesions causing blurred vision. Other eye abnormalities, such as glaucoma and cataracts are also common.…”

Section: Introductionmentioning

confidence: 99%

In SilicoAnalysis ofB3GALTLGene Reveling 13 Novel Mutations Associated with Peters’-plus syndrome

Abdelmoneim

Satti

Abdelmageed

et al. 2020

Preprint

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BackgroundPeters’-plus syndrome is a rare autosomal recessive disorder, which is characterized by a specific malformation of the eye that includes corneal opaqueness and iridocorneal adhesions (Peters’ anomaly) along with other systemic manifestations. Furthermore, various researches report the association between B3GALTL gene and Peters’-plus syndrome. In the current work we aim to analyze the deleterious SNPs in B3GALTL gene that predispose to Peters’-plus syndrome.Methodthe associated SNPs of the coding region of the B3GALTL gene was acquired from National Center for Biotechnology Information and then analyzed by eight softwares (SIFT, Polyphen2, Proven, SNAP2, SNP@GO, PMut, Imutant and Mupro). The physiochemical properties of the resulted SNPs were then analyzed by Hope project website and visualized by chimera software.ResultThirteen novel mutations (Y172C, A222V, C260R, C260Y, D349G, I354K, R377C, G379C, G393R, G393E, G395E, G425E, R445W) are discovered in B3GALTL gene to cause deleterious effects leading to the development of Peters’-plus syndrome.ConclusionThirteen novel mutations in B3GALTL gene are predicted to cause Peters’-plus syndrome.

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Peters Plus Syndrome: Another Way to See a Known Syndrome

Cited by 2 publications

References 8 publications

Peter plus syndrome: A neurosurgeon’s perspective

Peter plus syndrome: A neurosurgeon’s perspective

In SilicoAnalysis ofB3GALTLGene Reveling 13 Novel Mutations Associated with Peters’-plus syndrome

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