Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a ...retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype–phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty‐nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non‐LoF variants. This study identifies genotype–phenotype correlations as well as race‐facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long‐term outcomes in individuals with WSS.
The cover image is based on the Clinical Report A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual by Mary Maj et al., ...https://doi.org/10.1002/mgg3.2064
Image Credit: Used with permission, Sarah Gluschitz, St. George’s University, Department of Anatomical Sciences
The cover image is based on the Original Article
Sickle cell disease in Grenada: Quality of life and barriers to care
by Alyssa Grygiel et al.,
https://doi.org/10.1002/mgg3.1567
. Image credit: Jack ...Nelson and Lucia Garces Torres.
The cover image is based on the Clinical Report A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay by Giavanna Verdi et al.,
...https://doi.org/10.1002/mgg3.1900
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