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Grant support

This work was possible thanks to the funding provided by the project "Proyecto Piloto para la mejora del diagnostico genetico en personas y familias afectadas o con sospecha de padecer enfermedades raras de base genetica" of the Ministry of Health, under the grant BOCM-20181126-24 provided by the Consejeria de Sanidad de la Comunidad de Madrid. Funding to J.P. and F.J.R. was partially provided by the group research grant DGA/FEDER B32_17R/B32_20R.

Analysis of institutional authors

Palomares-Bralo, MariaAuthor

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Review

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Publicated to:Genes. 12 (5): 738- - 2021-05-01 12(5), DOI: 10.3390/genes12050738

Authors: Tenorio-Castano, Jair; Morte, Beatriz; Nevado, Julian; Martinez-Glez, Victor; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Gomez, Beatriz; Arias, Pedro; Alcochea, Alba; Carrion, Juan; Arias, Patricia; Almoguera, Berta; Lopez-Grondona, Fermina; Lorda-Sanchez, Isabel; Galan-Gomez, Enrique; Valenzuela, Irene; Mendez Perez, Maria Pilar; Cusco, Ivon; Barros, Francisco; Pie, Juan; Ramos, Sergio; Ramos, Feliciano J; Kuechler, Alma; Tizzano, Eduardo; Ayuso, Carmen; Kaiser, Frank J; Perez-Jurado, Luis A; Carracedo, Angel; Lapunzina, Pablo

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Abstract

Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identified SHMS individuals with the classical c.607C > T: p.Arg206Trp PACS1 pathogenic variant and review clinical and molecular aspects of all the patients reported in the literature, providing a summary of clinical findings grouped as very frequent (>= 75% of patients), frequent (50-74%), infrequent (26-49%) and rare (less than <= 25%).

Keywords

Intellectual disabilityPacs1Pathogenic variant c.607c &gtPathogenic variant c.607c > tPhospho-furin acidic cluster sorting protein 1Phosphofurin acidic cluster sorting protein 1Rare disordersSchuurs-hoeijmakers syndromeSchuurs–hoeijmakers syndromeT

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Genes due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2021, it was in position 72/175, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Genetics.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 1.13. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Field Citation Ratio (FCR) from Dimensions: 4.51 (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-04, the following number of citations:

  • WoS: 15
  • Scopus: 15
  • OpenCitations: 16

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-04:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 28.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 28 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 4.1.
  • The number of mentions on the social network X (formerly Twitter): 9 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Germany.