Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3' Untranslated Region Mutation of COL4A1 Gene

Stroke; a Journal of Cerebral Circulation
Yu-Ying ZhaoChuan-Zhu Yan

Abstract

Background and Purpose- Pontine autosomal dominant microangiopathy and leukoencephalopathy, a recently defined subtype of cerebral small vessel disease, is associated with mutations in COL4A1 (collagen type IV alpha 1 chain) 3' untranslated region. We here describe a pontine autosomal dominant microangiopathy and leukoencephalopathy pedigree with COL4A1 mutation presenting both pontine and cervical spinal cord involvement. Methods- For the diagnostic purpose, brain and spinal magnetic resonance imaging scanning, skin biopsy, and whole-exome sequencing were performed on the patients in the pedigree. Suspected pathogenic variants were further confirmed by cosegregation analysis using Sanger sequencing in the family members. Results- We identified a mutation located at the binding site of miR-29 (microRNA-29) in 3' untranslated region of COL4A1(c.*32G>A). The pontine autosomal dominant microangiopathy and leukoencephalopathy patients in this pedigree carried this variant, whereas other healthy family members but one did not. Magnetic resonance imaging showed lesions in the pons, white matter, and cervical spinal cord. Skin biopsy revealed thickened basal lamina in vessels. Conclusions- For the first time, we reported cervical spin...Continue Reading

References

Aug 31, 1977·Acta Neuropathologica·P Sourander, J Wålinder
May 21, 2005·Science·Douglas B GouldSimon W M John
Aug 19, 2005·Journal of Medical Genetics·G BreedveldG M S Mancini
Feb 4, 2009·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Xiao-Qi DingJens Fiehler
Jun 19, 2010·Stroke; a Journal of Cerebral Circulation·Silvia Lanfranconi, Hugh S Markus
Nov 11, 2010·Neuropathology and Applied Neurobiology·Y YamamotoR N Kalaria
Jan 3, 2012·American Journal of Human Genetics·Marion JeanneDouglas B Gould
Apr 24, 2012·Annals of Neurology·Yi-Chinn WengDouglas B Gould
Sep 6, 2013·Circulation Research·Mélanie AbonnencManuel Mayr
Dec 3, 2014·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Leah CushingJining Lü
Sep 24, 2016·Clinical Science·Joanna M Wardlaw, Karen Horsburgh
Mar 4, 2017·Clinical Neurology and Neurosurgery·Christian Baastrup SøndergaardHanne Christensen
Apr 4, 2017·Brain : a Journal of Neurology·Maija SiitonenRita Guerreiro
Sep 30, 2017·Stroke and Vascular Neurology·Yulu Shi, Joanna M Wardlaw
May 2, 2018·Clinical Science·Karen HorsburghLorraine M Work

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Citations

Jun 18, 2021·Frontiers in Endocrinology·Yang GuoJian Fei

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