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Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Am J Med Genet A. 2020 10; 182(10):2372-2376.AJ

Abstract

Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss-of-function variants in PCNT gene, of which one is a novel variant (c.5304delT; p.Gly1769AlafsTer34). The patient presented atypical brain magnetic resonance imaging (MRI) findings consistent with pachygyria. This was confirmed by morphometric analysis of cortical thickness (CT) and gyrification index by comparing MRI data of the patient with a group of eight age-matched healthy controls. The statistical analysis revealed a significant and diffuse increase of CT with an anterior-predominant pattern and diffuse reduced gyrification (p < .05). These findings provide new evidences to the emergent concept that malformations of cortical development are complex disorders and that new genetic findings contribute to the fading of classification borders.

Authors+Show Affiliations

Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Nesmos Department, Sapienza University, Rome, Italy.Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Nesmos Department, Sapienza University, Rome, Italy.Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.Medical Physics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32744776

Citation

Rossi-Espagnet, Maria C., et al. "Microcephalic Osteodysplastic Primordial Dwarfism Type II and Pachygyria: Morphometric Analysis in a 2-year-old Girl." American Journal of Medical Genetics. Part A, vol. 182, no. 10, 2020, pp. 2372-2376.
Rossi-Espagnet MC, Dentici ML, Pasquini L, et al. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. Am J Med Genet A. 2020;182(10):2372-2376.
Rossi-Espagnet, M. C., Dentici, M. L., Pasquini, L., Carducci, C., Lucignani, M., Longo, D., Agolini, E., Novelli, A., Gonfiantini, M. V., Digilio, M. C., Napolitano, A., & Bartuli, A. (2020). Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. American Journal of Medical Genetics. Part A, 182(10), 2372-2376. https://doi.org/10.1002/ajmg.a.61771
Rossi-Espagnet MC, et al. Microcephalic Osteodysplastic Primordial Dwarfism Type II and Pachygyria: Morphometric Analysis in a 2-year-old Girl. Am J Med Genet A. 2020;182(10):2372-2376. PubMed PMID: 32744776.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. AU - Rossi-Espagnet,Maria C, AU - Dentici,Maria L, AU - Pasquini,Luca, AU - Carducci,Chiara, AU - Lucignani,Martina, AU - Longo,Daniela, AU - Agolini,Emanuele, AU - Novelli,Antonio, AU - Gonfiantini,Michaela V, AU - Digilio,Maria C, AU - Napolitano,Antonio, AU - Bartuli,Andrea, Y1 - 2020/08/03/ PY - 2020/02/08/received PY - 2020/06/16/revised PY - 2020/06/17/accepted PY - 2020/8/4/pubmed PY - 2021/6/2/medline PY - 2020/8/4/entrez KW - MOPD type II KW - PCNT KW - malformations of cortical development KW - morphometric analysis KW - pachygyria SP - 2372 EP - 2376 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 182 IS - 10 N2 - Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss-of-function variants in PCNT gene, of which one is a novel variant (c.5304delT; p.Gly1769AlafsTer34). The patient presented atypical brain magnetic resonance imaging (MRI) findings consistent with pachygyria. This was confirmed by morphometric analysis of cortical thickness (CT) and gyrification index by comparing MRI data of the patient with a group of eight age-matched healthy controls. The statistical analysis revealed a significant and diffuse increase of CT with an anterior-predominant pattern and diffuse reduced gyrification (p < .05). These findings provide new evidences to the emergent concept that malformations of cortical development are complex disorders and that new genetic findings contribute to the fading of classification borders. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32744776/Microcephalic_osteodysplastic_primordial_dwarfism_type_II_and_pachygyria:_Morphometric_analysis_in_a_2_year_old_girl_ L2 - https://doi.org/10.1002/ajmg.a.61771 DB - PRIME DP - Unbound Medicine ER -