2021
DOI: 10.1002/ajmg.a.62341
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The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology

Abstract: Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six decades that have paralleled the delineation of the phenotype. After mention in the Human Chromosome Newsletter of a child with a visible deletion of the top of a B chromosome group, 4-5, Hirschhorn and colleagues companioned their report with that of Wolf et al. in… Show more

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Cited by 4 publications
(5 citation statements)
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“…To our knowledge, RGS12 was not implicated in human hearing loss to date. Wolf-Hirschhorn syndrome caused by hemizygote deletions of the distal end of chromosome 4 includes sensorineural hearing loss in about 15% of cases ( 71 ). As larger deletions can include RGS12 ( 72 ), RGS12 haploinsufficiency may contribute to hearing loss.…”
Section: Discussionmentioning
confidence: 99%
“…To our knowledge, RGS12 was not implicated in human hearing loss to date. Wolf-Hirschhorn syndrome caused by hemizygote deletions of the distal end of chromosome 4 includes sensorineural hearing loss in about 15% of cases ( 71 ). As larger deletions can include RGS12 ( 72 ), RGS12 haploinsufficiency may contribute to hearing loss.…”
Section: Discussionmentioning
confidence: 99%
“…The LETM1 encodes leucine zipper and EF-hand containing transmembrane protein 1 located in the inner membrane of the mitochondria, 45 and its deletion leads to WHS. 34 , 41 , 45 The onset age of the 2 patients (W156 and W050) in the reference study 35 was younger than our family, and the central nerve system was involved ( Table 3 ). The deleted segment in these 2 cases shared exon 7 (exon 1–7 deletion in W156 and exon 7–13 deletion in W050), which was responsible for the second transmembrane domain of the LETM1 protein.…”
Section: Discussionmentioning
confidence: 73%
“…Such a phenotype of peripheral nerve degeneration is distinct from the well-known microdeletion syndrome of the Wolf-Hirschhorn syndrome (WHS), which affects brain development. 41 Furthermore, we also illustrate a diagnostic approach for hereditary neuropathy by applying long-read sequencing and optical mapping techniques for full genome analysis.…”
Section: Discussionmentioning
confidence: 99%
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