{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T00:48:53Z","timestamp":1649119733003},"reference-count":13,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414\u2009+\u20091G\u2009&gt;\u2009T (IVS5\u2009+\u20091G\u2009&gt;\u2009T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype\u2013genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.<\/jats:p>","DOI":"10.1055\/s-0041-1728654","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T23:00:59Z","timestamp":1625094059000},"page":"302-309","source":"Crossref","is-referenced-by-count":0,"title":["Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review"],"prefix":"10.1055","volume":"52","author":[{"given":"Yosra","family":"Bouyacoub","sequence":"first","affiliation":[{"name":"LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyrine","family":"Drissi","sequence":"first","affiliation":[{"name":"Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariem","family":"Chargui","sequence":"additional","affiliation":[{"name":"LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibtihel","family":"Rebai","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Chebil","sequence":"additional","affiliation":[{"name":"Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9dia","family":"Klaa","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanene","family":"Benrhouma","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Hassen","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neziha","family":"Gouider-Khouja","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Abdelhak","sequence":"additional","affiliation":[{"name":"LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Boespflug-Tanguy","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, NeuroDiderot, UMR 1141, INSERM, Neurop\u00e9diatrie, LEUKOFRANCE, APHP, H\u00f4pital Robert Debr\u00e9, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilhem Ben","family":"Youssef-Turki","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imen","family":"Dorboz","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Paris, NeuroDiderot, UMR 1141, INSERM, Neurop\u00e9diatrie, LEUKOFRANCE, APHP, H\u00f4pital Robert Debr\u00e9, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"issue":"10","key":"ref1","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1586\/ern.11.135","article-title":"Childhood leukodystrophies: a clinical perspective","volume":"11","author":"A Kohlsch\u00fctter","year":"2011","journal-title":"Expert Rev Neurother"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ana.24194","article-title":"Hypomyelinating leukodystrophies: translational research progress and prospects","volume":"76","author":"P J Pouwels","year":"2014","journal-title":"Ann Neurol"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/j.jocn.2013.09.014","article-title":"Hypomyelinating leukodystrophy-associated missense mutant of FAM126A\/hyccin\/DRCTNNB1A aggregates in the endoplasmic reticulum","volume":"21","author":"Y 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