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Neuropediatrics 2021; 52(04): 302-309
DOI: 10.1055/s-0041-1728654
Original Article

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

Ichraf Kraoua   *
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Yosra Bouyacoub‡   *
2   LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Cyrine Drissi‡   *
3   Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Mariem Chargui
2   LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Ibtihel Rebai
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Ahmed Chebil
4   Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Hédia Klaa
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Hanene Benrhouma
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Aida Hassen
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Neziha Gouider-Khouja
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Sonia Abdelhak
2   LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Odile Boespflug-Tanguy
5   Université de Paris, NeuroDiderot, UMR 1141, INSERM, Neuropédiatrie, LEUKOFRANCE, APHP, Hôpital Robert Debré, France
,
Ilhem Ben Youssef-Turki
1   LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia
,
Imen Dorboz
5   Université de Paris, NeuroDiderot, UMR 1141, INSERM, Neuropédiatrie, LEUKOFRANCE, APHP, Hôpital Robert Debré, France
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Abstract

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 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype–genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.

Keywords

hypomyelination - cataract - HCC - FAM126A gene - MRI

* These authors contributed equally to this work.




Publication History

Received: 28 September 2020

Accepted: 14 February 2021

Article published online:
30 June 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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