A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction

Ekinci, Faruk; Yildizdaş, Riza; Horoz, Özden Özgür; Hergüner, Özlem; Bişgin, Atıl

doi:10.1016/j.ejmg.2020.103923

Cited by 5 publications

(12 citation statements)

References 22 publications

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“…In the case of SWS, the calcifications are absent or minimal in neonates and infants. However, in tuberous sclerosis, there are subependymal nodules that were absent in our patient [ 7 , 11 , 12 ].…”

Section: Discussionmentioning

confidence: 88%

“…Depending on the defective gene, there are three types of pseudo-TORCH syndrome. The most common mimicker of PTS is AGS, which is accepted as an interferonopathy [ 11 , 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, a new interferonopathy has been described to cause PTS: human ubiquitin-specific peptidase 18 ( USP18 ) deficiencies. USP18 is a key negative regulator of type I IFN signaling, and its deficiency represents the genetic disorder of PTS and specifically pseudo-TORCH syndrome 2 (PTORCH2) that is caused by dysregulation of the response to type I IFN, which is represented by early-onset intracranial calcifications, thrombocytopenia, and other features of the pseudo-TORCH phenotype [ 8 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

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A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

Misk

Qawasme

Abunejma³

et al. 2022

Case Reports in Pediatrics

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A pseudo-TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4-day-old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense USP18 gene mutation that causes pseudo-TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.

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Section: Discussionmentioning

confidence: 88%

“…Depending on the defective gene, there are three types of pseudo-TORCH syndrome. The most common mimicker of PTS is AGS, which is accepted as an interferonopathy [ 11 , 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

Misk

Qawasme

Abunejma³

et al. 2022

Case Reports in Pediatrics

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“…It was located in the highly conserved MARVEL domain of Occludin which was commonly detected with mutations in patients [ 20 ]. Currently limited cases with biallelic changes in the OCLN genes were reported [ 21 , 22 , 23 ]. The patients mainly present with microcephaly, simplified gyration and polymicrogyria (PMG), intracranial calcifications, early onset seizures, and severe developmental delay which mimic congenital TORCH infection [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…Some patients present a characteristic prominent band of cortical gray matter calcification in the brain MRI [ 21 ]. Besides the core phenotypes, other uncommon phenotypes include congenital cataract and/or microphthalmia, central diabetes insipidus, and renal dysfunction [ 20 , 21 , 22 , 23 ]. In general, the prognosis of patients was poor, and early death was frequently reported [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

Lau

Kan

et al. 2021

Diagnostics

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Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed OCLN gene defects may be associated with these multiple congenital abnormalities.

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COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum

Kukulka,

Zarei,

Glass

et al. 2024

American J of Med Genetics Pt A

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Pseudo‐TORCH Syndrome (PTS) encompasses a heterogeneous group of genetic disorders that may clinically and radiologically resemble congenital TORCH infections. These mimickers present with overlapping features manifested as intracranial and systemic abnormalities. Collagen type IV alpha 1 chain (COL4A1)‐related diseases, characterized by autosomal dominant inheritance, exhibit a diverse phenotypic spectrum involving cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. Cerebrovascular manifestations range from small‐vessel brain disease to large vessel abnormalities, resulting in intracerebral hemorrhage, periventricular leukoencephalopathy, and ventriculomegaly. Additional features include cortical malformations, eye defects, arrhythmias, renal disease, muscular abnormalities, and hematological manifestations. Age of onset varies widely, and phenotypic variability exists even among individuals with the same variant. In this study, we present two cases of COL4A1‐related disorder mimicking congenital TORCH infections, highlighting the importance of recognizing genetic mimics in clinical practice.

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A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction

Cited by 5 publications

References 22 publications

A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

A Case Report and Literature Review of Pseudo‐TORCH Syndrome Type 2 (PTORCH2)

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

COL4A1‐related disorder as a mimic of congenital TORCHES infection—Expanding the clinical, neuroimaging and genotype spectrum

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