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

Francesca Gallini, Domenica Immacolata Battaglia, Simona Gaudino, Domenico Marco Romeo, Luca Massimi, Giovanni Vento, Eugenio Maria Mercuri, Eloisa Tiberi, Ilaria Contaldo, Chiara Veredice, Domenico Umberto De Rose, Alessia Asaro, Cristina Cereda

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

Abstract

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.
Lingua originaleEnglish
pagine (da-a)4759-4765
Numero di pagine7
RivistaNeurological Sciences
Volume42
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Brain
  • COL4A1
  • Calcinosis
  • Cataract
  • Cataracts
  • Cell Adhesion Molecules
  • Cerebral hemorrhages
  • Child
  • Female
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • JAM3
  • Male
  • Neonate
  • Pregnancy
  • Saudi Arabia
  • Seizures

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