Grace M. Hobson

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact

Katrina M Moore, Nicole I. Wolf, Grace M. Hobson, Kristina Bowyer et autres

Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact …

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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein et autres

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi et autres

CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly …

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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Johanna Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley et autres

Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 …

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Genome sequencing in persistently unsolved white matter disorders

Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi et autres

Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis …

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Inside Back Cover, Volume 41, Issue 1

Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini et autres

Inside Back Cover: The cover image is based on the Research Article Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome by Hadia Hijazi et al., https://doi.org/10.1002/humu.23902. Cover image © Hadia Hijazi & …

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Table 2. [Spectrum of PLP1 Disorders].

Nicole I. Wolf, Rosalina Ml van Spaendonk, Grace M. Hobson, John Kamholz

Table 1. [Molecular Genetic Testing Used in PLP1 Disorders].

Nicole I. Wolf, Rosalina Ml van Spaendonk, Grace M. Hobson, John Kamholz

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck et autres

BACKGROUND: We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then compared our new data to previous …

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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini et autres

Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) …

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Figure 1. [MRI in a male age...].

Norah Nahhas, Alex Conant, Jennifer Orthmann‐Murphy, Adeline Vanderver et autres

Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS

Stephanie Tantzer, Karen Sperle, Kaitlin M. Kenaley, Jennifer R. Taube et autres

DNA variants of the proteolipid protein 1 gene (PLP1) that shift PLP1/DM20 alternative splicing away from the PLP1 form toward DM20 cause the allelic X-linked leukodystrophies Pelizaeus-Merzbacher disease (PMD), spastic paraplegia 2 (SPG2), and hypomyelination of early myelinating structures (HEMS). We designed …

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