Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.
12 affiliations
- 1Department of Pediatric Genetics, Diyarbakir Children's Hospital, Türkiye.
- 2Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
- 3Department of Pediatric Dentistry, Dicle University Faculty of Dentistry, Diyarbakır, Türkiye.
- 4Department of Oral and Maxillofacial Radiology, Hacettepe University Faculty of Dentistry Ankara, Türkiye.
- 5Department of Pediatric Dentistry, Hacettepe University Faculty of Dentistry, Ankara, Türkiye.
- 6Department of Pediatric Dentistry, Yozgat Bozok University Faculty of Dentistry, Türkiye.
- 7Department of Pediatric Neurology, Diyarbakir Children's Hospital, Türkiye.
- 8Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Türkiye.
- 9Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Türkiye.
- 10Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
- 11Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye; and.
- 12Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Türkiye.
Abstract
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII; MIM #210720) is a rare autosomal recessive disorder characterized by severe growth failure and microcephaly, frequently complicated by central nervous system (CNS) anomalies and early-onset cerebrovascular disease. This study aimed to define the neurologic, radiologic, molecular, and oral-dental features of a MOPDII cohort, with particular emphasis on cerebrovascular involvement, and to assess genotype-phenotype correlations. Molecular diagnosis was established using next-generation sequencing, including targeted gene panel sequencing (n = 11) and exome sequencing (n = 1), or Sanger sequencing (n = 11). Clinical data, neuroimaging and vascular findings, systematic oral-dental examinations, and molecular results were retrospectively reviewed. Twenty-three patients from 18 unrelated consanguineous families were included. Seventeen distinct homozygous PCNT variants were identified, including 5 splice-site, 5 frameshift, and 7 nonsense variants; of these, 12 were novel. Structural CNS anomalies were common, with the thin corpus callosum being the most frequent finding, observed in 14 of 17 patients (82%) who underwent cranial imaging. Moyamoya disease was identified in 12 patients (70.5%), of whom 7 experienced chronic or acute cerebral infarctions and/or intracranial hemorrhage. Three patients with moyamoya disease died of complications related to vascular involvement. The 2 oldest patients developed severe peripheral arterial and coronary artery occlusions, leading to spontaneous limb amputation and acute myocardial infarction. Oral-dental evaluation, performed in 14 patients (61%), revealed microdontia, malformed teeth, and root shortening. No consistent genotype-phenotype correlation was identified for cerebrovascular or orodental manifestations. MOPDII is strongly associated with moyamoya disease and represents a major cause of neurologic morbidity and mortality. Early and longitudinal neuroimaging, including brain MRI and angiographic assessment, should be integral to patient management. Oral-dental abnormalities are common and merit routine evaluation.
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BibTeX
@article{akalın2026comprehensive,
title = {{Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.}},
author = {Akçahan Akalın and İsmet Rezani Toptancı and Nagihan Koç and Cansu Özşin Özler and Fatma Dilara Baysan and Veysel Öz and Gizem Ürel-Demir and Funda Kökali and Kadir Işık and Enise Avcı Durmuşalioğlu and Esra Isik and Rahsan Gocmen and Tahir Atik and Göknur Haliloğlu and Dilek Yalnizoglu and Meryem Uzamış Tekçiçek and Gülen Eda Utine and Nursel H Elcioglu and Pelin Ozlem Simsek Kiper},
journal = {Neurology. Genetics},
year = {2026},
month = oct,
doi = {10.1212/nxg.0000000000200446},
url = {https://europepmc.org/article/MED/42953897},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Comprehensive Clinical, Neuroradiologic, and Oral Health of 23 Individuals With MOPDII: Molecular Spectrum and Phenotypic Features.
AU - Akçahan Akalın
AU - İsmet Rezani Toptancı
AU - Nagihan Koç
AU - Cansu Özşin Özler
AU - Fatma Dilara Baysan
AU - Veysel Öz
AU - Gizem Ürel-Demir
AU - Funda Kökali
AU - Kadir Işık
AU - Enise Avcı Durmuşalioğlu
AU - Esra Isik
AU - Rahsan Gocmen
AU - Tahir Atik
AU - Göknur Haliloğlu
AU - Dilek Yalnizoglu
AU - Meryem Uzamış Tekçiçek
AU - Gülen Eda Utine
AU - Nursel H Elcioglu
AU - Pelin Ozlem Simsek Kiper
PY - 2026
DA - 2026/10/27
JO - Neurology. Genetics
DO - 10.1212/nxg.0000000000200446
UR - https://europepmc.org/article/MED/42953897
AB - Microcephalic osteodysplastic primordial dwarfism type II (MOPDII; MIM #210720) is a rare autosomal recessive disorder characterized by severe growth failure and microcephaly, frequently complicated by central nervous system (CNS) anomalies and early-onset cerebrovascular disease. This study aimed to define the neurologic, radiologic, molecular, and oral-dental features of a MOPDII cohort, with particular emphasis on cerebrovascular involvement, and to assess genotype-phenotype correlations. Molecular diagnosis was established using next-generation sequencing, including targeted gene panel sequencing (n = 11) and exome sequencing (n = 1), or Sanger sequencing (n = 11). Clinical data, neuroimaging and vascular findings, systematic oral-dental examinations, and molecular results were retrospectively reviewed. Twenty-three patients from 18 unrelated consanguineous families were included. Seventeen distinct homozygous PCNT variants were identified, including 5 splice-site, 5 frameshift, and 7 nonsense variants; of these, 12 were novel. Structural CNS anomalies were common, with the thin corpus callosum being the most frequent finding, observed in 14 of 17 patients (82%) who underwent cranial imaging. Moyamoya disease was identified in 12 patients (70.5%), of whom 7 experienced chronic or acute cerebral infarctions and/or intracranial hemorrhage. Three patients with moyamoya disease died of complications related to vascular involvement. The 2 oldest patients developed severe peripheral arterial and coronary artery occlusions, leading to spontaneous limb amputation and acute myocardial infarction. Oral-dental evaluation, performed in 14 patients (61%), revealed microdontia, malformed teeth, and root shortening. No consistent genotype-phenotype correlation was identified for cerebrovascular or orodental manifestations. MOPDII is strongly associated with moyamoya disease and represents a major cause of neurologic morbidity and mortality. Early and longitudinal neuroimaging, including brain MRI and angiographic assessment, should be integral to patient management. Oral-dental abnormalities are common and merit routine evaluation.
SN - 2376-7839
ER -