Article Figures & Data
Figures
- Figure 1 Photograph of patient 19 showing facial features compatible with Treacher Collins syndrome (TCS)
Photograph of patient 19 at age 10 years. She had facial features in keeping with TCS, including downslanted palpebral fissures, strabismus, bitemporal narrowing, external ear abnormalities, cleft palate, and prominent micrognathia.
- Figure 2 Brain MRI characteristics of 4 patients with POLR3-HLD caused by biallelic POLR1C pathogenic variants
Sagittal T1 (A, F, K, and P), axial T2 (B–D, G–I, L–N, and Q–S) and axial T1 (E, J, O, and T) images. (A–E) MRI of patient 18 obtained at age 11 years showing diffuse hypomyelination with superimposed areas of pronounced T2 hyperintensity (C and D) and corresponding T1 hypointensity (E). Thinning of the corpus callosum and mild superior vermis atrophy are also seen (A), as well as preserved myelination of the dentate nucleus (B), globus pallidus, anterolateral nucleus of the thalamus, and optic radiation (C). (F–J) MRI of patient 4 obtained at age 5 years showing diffuse hypomyelination with preservation of the dentate nucleus (G), anterolateral nucleus of the thalamus, and optic radiation (H). There is also thinning of the corpus callosum and mild vermis atrophy (F). Areas of marked T2 hyperintensity of the white matter are seen (H and I), with corresponding pronounced T1 hypointensity (J). (K–O), MRI of patient 1 obtained at age 5 years showing a thin corpus callosum (K), relative preservation of myelination of the dentate nucleus (L), and absent T2 hypointensity of the corticospinal tracts in the posterior limb of the internal capsule (M). (P–T), MRI of patient 20.1 obtained at age 3 years showing areas of prominent T2 hyperintensity of the white matter (R and S) with corresponding T1 hypointensity (T), especially in the deep white matter. There is also bilateral frontal polymicrogyria (R, S, and T). POLR3-HLD = RNA polymerase III-related leukodystrophy.
- Figure 3 Pathogenic variants identified in POLR1C associated with POLR3-HLD
(A–B) All reported pathogenic variants and their positions within the POLR1C gDNA (A), with missense variants represented in green, in frame in orange, truncating in black, splice site in purple, and stop in red (B). (C) Missense variants displayed on the structure of the yeast ortholog of POLR1C (RPAC40). Variants previously identified in POLR3-HLD are represented in italic, whereas newly identified variants are shown in bold. The p.Lys295del is shown in orange. The p.Thr26Ile, p.Thr27Ala, and p.Pro30Ser variants have not been represented because they are not visible in the crystal structure of RPAC40 (PDB 5M5W).19,20,38–40 POLR3-HLD = RNA polymerase III-related leukodystrophy.
Tables
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Topics Discussed
Alert Me
Recommended articles
Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
Novel Mutation in the POLR1C Gene Causing Hypomyelinating Leukodystrophy in an Adult
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy