Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

Slee, Jennie; Lam, Geoffrey C.; Walpole, Ian

doi:10.1002/(sici)1096-8628(19990604)84:4<330::aid-ajmg4>3.0.co;2-w

Cited by 15 publications

(7 citation statements)

References 8 publications

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“…Clarification of the genetic basis of AGS and expansion of the AGS phenotype [Stephenson et al, 1997;Crow et al, 2000Crow et al, , 2003Sanchis et al, 2005;Rice et al, 2007] suggests that this distinction is not appropriate so that the previous OMIM entry for pseudo-TORCH syndrome (251290) has been withdrawn and moved to the AGS (225750) entry. However, we note that a number of other congenital infection-like phenotypes, obviously distinct from AGS, have also been described [e.g., Slee et al, 1999;Vivarelli et al, 2001;Knoblauch et al, 2003;Gardner et al, 2005;Watts et al, 2008]. At present, the classification of these conditions is uncertain and so the use of the umbrella-term ''pseudo-TORCH phenotype'' may still be useful.…”

Section: Discussionmentioning

confidence: 97%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

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The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 97%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

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“…Conversely, OCLN is associated with autosomal recessive Pseudo-TORCH syndrome 1 (OMIM #251,290): affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay [22]. Patients with OCLN mutations did not have intracranial hemorrhages or congenital cataracts; only two siblings reported by Slee et al (1999) also presented with congenital cataracts [23].…”

Section: Discussionmentioning

confidence: 99%

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

et al. 2021

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Background JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC). Case report Herein, we present a newborn male with a prenatal suspicion of bilateral cataracts but without fetal ultrasound findings of cortical malformations. He was postnatally diagnosed with a clinical picture of HDBSCC and Early-onset Developmental and Epileptic Encephalopathy (DEE), associated to a homozygous variant of JAM3 gene. Conclusion Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counseling. To the best of our knowledge, this is the first case reported of a child with a JAM3 variant in Italy, from a different ethnic background than the other reported children until now (Saudi Arabian, Turkish, Afghani, and Moroccan origin). JAM3 screening could be requested in prenatal diagnosis of fetal congenital cataracts and included in Next-Generation DNA Sequencing panels.

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“…Two siblings with early onset autoinflammatory disease with neurological features and elevated IFN signature were additionally described with a homozygous missense mutation in STAT2 resulting in gain of activity due to the inability of mutant STAT2 to interact with the STAT2-dependent negative regulator of interferon activity, USP18 [ 107 ]. Congenital cataracts have been the only associated ocular feature of pseudo-TORCH syndrome 1 to date [ 109 ]. Animal models have not been examined for ocular or skin phenotypes.…”

Section: Genetic Disorders and Features Of Innate Immune Pathway Componentsmentioning

confidence: 99%

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

Serpen

Armenti

Prasov

2021

Journal of Ophthalmology

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Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973–2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways.

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Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification

Cited by 15 publications

References 8 publications

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

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