Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
We identified two recurrent damaging biallelic Asp312Asn and p.Arg234Gly variants in the <i>NAGLU</i> gene. Structure modeling of these variants suggested that each variant affects the stability of the enzyme and results in a loss of activity. All affected individuals' enzymatic assay in leukocytes clearly showed that α-n-acetylglucosaminidase was completely inactive. Our patients underwent magnetic resonance imaging (MRI), revealing normal findings in two of them despite progressive clinical neurodegenerative symptoms. To our knowledge, these cases represent the second and third instances of normal MRI findings documented in the literature.
Authors
- Ayşe Kılınçaslan (ORCID: https://orcid.org/0000-0002-7332-3658)
- Murat Günel (ORCID: https://orcid.org/0000-0002-2290-7055)
- Seda Erbilgin (ORCID: https://orcid.org/0000-0002-0861-8492)
- K. Devendra (ORCID: https://orcid.org/0000-0002-1414-4676)
- A. Gulhan Ercan‐Sencicek (ORCID: https://orcid.org/0000-0003-2838-3341)
- E. Zeynep Erson‐Omay (ORCID: https://orcid.org/0000-0003-1839-5912)
- Merve Çıkılı Uytun (ORCID: https://orcid.org/0000-0002-2381-5742)
- Tanyeri Barak (ORCID: https://orcid.org/0000-0002-8522-1552)
- Serdar Ceylaner (ORCID: https://orcid.org/0000-0003-2786-1911)
- Ahmet Okay Çağlayan (ORCID: https://orcid.org/0000-0002-2332-322X)
- Kaya Bilgüvar (ORCID: https://orcid.org/0000-0002-7313-7652)
- Hüseyin Per (ORCID: https://orcid.org/0000-0001-9904-6479)
- İlyas Kaya (ORCID: https://orcid.org/0000-0001-8608-672X)
- Hakan Gümüş (ORCID: https://orcid.org/0000-0001-5896-074X)
- Maria Kontaridis (ORCID: https://orcid.org/0000-0002-6121-0533)
- Didem Behice Öztop (ORCID: https://orcid.org/0000-0003-3189-2112)
- Hande Kaymakcalan Celebiler
- Icten Bozkurt
- Nilay Akhun
Institutions
- Bahçeşehir University (TR)
- Beth Israel Deaconess Medical Center (US)
- Harvard University (US)
- Ankara University (TR)
- Yale University (US)
- Masonic Medical Research Laboratory (US)
- Istanbul Eye Hospital (TR)
- Harvard Stem Cell Institute (US)
- Intergen (Turkey) (TR)
- Amerikan Hastanesi (TR)
- Istanbul University (TR)
- Erciyes University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-06
- DOI
- https://doi.org/10.1159/000542367
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Yale University
- National Institute of Mental Health
- National Center for Research Resources