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PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants

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dc.contributor.authorGrimes, H.
dc.contributor.authorAnsari, M.
dc.contributor.authorAshraf, T.
dc.contributor.authorCueto, Anna
dc.contributor.authorCalder, A.
dc.contributor.authorDay, M.
dc.contributor.authorFernandez, P.
dc.contributor.authorFoster, A.
dc.contributor.authorLahiri, N.
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorScurr, I.
dc.contributor.authorVarghese, V.
dc.contributor.authorLow, Karen
dc.contributor.authorVarghese, V.
dc.date.accessioned2024-06-03T16:09:44Z
dc.date.available2024-06-03T16:09:44Z
dc.date.issued2023
dc.description.abstractPUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with PUF60-related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with PUF60 gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel PUF60 variants. The addition of a further patient with a reported c449-457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in PUF60-related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in PUF60-related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with PUF60-related developmental disorder which has important genetic counseling implications for families
dc.description.versionAceptada
dc.identifier.citationGrimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ. PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. Am J Med Genet A. 2023 Oct;191(10):2610-2622. doi: 10.1002/ajmg.a.63313
dc.identifier.doihttps://doi.org/10.1002/ajmg.a.63313
dc.identifier.urihttps://hdl.handle.net/11447/8993
dc.language.isoen
dc.subjectPUF60
dc.subjectVerheij syndrome
dc.subjectCongenital anomalies
dc.subjectDevelopmental disorder
dc.subjectIntellectual disability
dc.subjectLearning difficulty
dc.subjectSpliceosomopathy
dc.titlePUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceAmerican journal of medical genetics. Part A
dspace.entity.typePublication
relation.isAuthorOfPublication98c75303-d87e-4c17-9d27-d9d710229223
relation.isAuthorOfPublication.latestForDiscovery98c75303-d87e-4c17-9d27-d9d710229223

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