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

Jair Tenorio-Castaño; Beatriz Morte; Julián Nevado; Víctor Martinez-Glez; Fernando Santos-Simarro; Sixto García-Miñaúr; María Palomares-Bralo; Marta Pacio-Míguez; Beatriz Gómez; Pedro Arias; Alba Alcochea; Juan Carrión; Patricia Arias; Berta Almoguera; Fermina López-Grondona; Isabel Lorda-Sanchez; Enrique Galán-Gómez; Irene Valenzuela; María Pilar Méndez Perez; Ivón Cuscó; Francisco Barros; Juan Pié; Sergio Ramos; Feliciano J. Ramos; Alma Kuechler; Eduardo Tizzano; Carmen Ayuso; Frank J. Kaiser; Luis A. Pérez-Jurado; Ángel Carracedo; Pablo Lapunzina

doi:10.3390/genes12050738

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

Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón CuscóFrancisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, Pablo Lapunzina

Institute of Human Genetics

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%).

Original language	English
Article number	738
Journal	Genes
Volume	12
Issue number	5
ISSN	2073-4425
DOIs	https://doi.org/10.3390/genes12050738
Publication status	Published - 13.05.2021

Research Areas and Centers

Research Area: Medical Genetics

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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Tenorio-Castaño, J., Morte, B., Nevado, J., Martinez-Glez, V., Santos-Simarro, F., García-Miñaúr, S., Palomares-Bralo, M., Pacio-Míguez, M., Gómez, B., Arias, P., Alcochea, A., Carrión, J., Arias, P., Almoguera, B., López-Grondona, F., Lorda-Sanchez, I., Galán-Gómez, E., Valenzuela, I., Méndez Perez, M. P., ... Lapunzina, P. (2021). Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes, 12(5), Article 738. https://doi.org/10.3390/genes12050738

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

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%).",

author = "Jair Tenorio-Casta{\~n}o and Beatriz Morte and Juli{\'a}n Nevado and V{\'i}ctor Martinez-Glez and Fernando Santos-Simarro and Sixto Garc{\'i}a-Mi{\~n}a{\'u}r and Mar{\'i}a Palomares-Bralo and Marta Pacio-M{\'i}guez and Beatriz G{\'o}mez and Pedro Arias and Alba Alcochea and Juan Carri{\'o}n and Patricia Arias and Berta Almoguera and Fermina L{\'o}pez-Grondona and Isabel Lorda-Sanchez and Enrique Gal{\'a}n-G{\'o}mez and Irene Valenzuela and {M{\'e}ndez Perez}, {Mar{\'i}a Pilar} and Iv{\'o}n Cusc{\'o} and Francisco Barros and Juan Pi{\'e} and Sergio Ramos and Ramos, {Feliciano J.} and Alma Kuechler and Eduardo Tizzano and Carmen Ayuso and Kaiser, {Frank J.} and P{\'e}rez-Jurado, {Luis A.} and {\'A}ngel Carracedo and Pablo Lapunzina",

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month = may,

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Tenorio-Castaño, J, Morte, B, Nevado, J, Martinez-Glez, V, Santos-Simarro, F, García-Miñaúr, S, Palomares-Bralo, M, Pacio-Míguez, M, Gómez, B, Arias, P, Alcochea, A, Carrión, J, Arias, P, Almoguera, B, López-Grondona, F, Lorda-Sanchez, I, Galán-Gómez, E, Valenzuela, I, Méndez Perez, MP, Cuscó, I, Barros, F, Pié, J, Ramos, S, Ramos, FJ, Kuechler, A, Tizzano, E, Ayuso, C, Kaiser, FJ, Pérez-Jurado, LA, Carracedo, Á & Lapunzina, P 2021, 'Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review', Genes, vol. 12, no. 5, 738. https://doi.org/10.3390/genes12050738

TY - JOUR

T1 - Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

AU - Tenorio-Castaño, Jair

AU - Morte, Beatriz

AU - Nevado, Julián

AU - Martinez-Glez, Víctor

AU - Santos-Simarro, Fernando

AU - García-Miñaúr, Sixto

AU - Palomares-Bralo, María

AU - Pacio-Míguez, Marta

AU - Gómez, Beatriz

AU - Arias, Pedro

AU - Alcochea, Alba

AU - Carrión, Juan

AU - Arias, Patricia

AU - Almoguera, Berta

AU - López-Grondona, Fermina

AU - Lorda-Sanchez, Isabel

AU - Galán-Gómez, Enrique

AU - Valenzuela, Irene

AU - Méndez Perez, María Pilar

AU - Cuscó, Ivón

AU - Barros, Francisco

AU - Pié, Juan

AU - Ramos, Sergio

AU - Ramos, Feliciano J.

AU - Kuechler, Alma

AU - Tizzano, Eduardo

AU - Ayuso, Carmen

AU - Kaiser, Frank J.

AU - Pérez-Jurado, Luis A.

AU - Carracedo, Ángel

AU - Lapunzina, Pablo

PY - 2021/5/13

Y1 - 2021/5/13

N2 - 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%).

AB - 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%).

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U2 - 10.3390/genes12050738

DO - 10.3390/genes12050738

M3 - Journal articles

C2 - 34068396

AN - SCOPUS:85107432349

SN - 2073-4425

VL - 12

JO - Genes

JF - Genes

IS - 5

M1 - 738

ER -

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

Abstract

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