Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Autor: Oliwa A; Undergraduate Medical School, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK., Hendson G; Division of Neuropathology, Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada., Longman C; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Synnes A; Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada., Seath K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Barnicoat A; Clinical Genetics Department, Great Ormond Street Hospital, London, UK., Hall JG; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 546-553. Date of Electronic Publication: 2022 Nov 01.
DOI: 10.1002/ajmg.a.63019
Abstrakt: Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the presence of cleft palate (DA3), ptosis and restriction in eye movements (DA5), and specific facial abnormalities and central nervous system involvement, respectively. We report on a boy with a recurrent de novo heterozygous PIEZO2 variant in exon 20 (NM_022068.3: c.2994G > A, p.(Met998Ile); NM_001378183.1: c.3069G > A, p.(Met1023Ile)), who presented at birth with DA and later developed respiratory insufficiency. His phenotype broadly fits the PIEZO2 phenotypic spectrum and potentially extends it with novel phenotypic features of pretibial linear vertical crease, immobile skin, immobile tongue, and lipid myopathy.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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