Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

Nevado, Julian; Bel Fenellos, María Cristina; Sandoval-Talamantes, Ana Karen; Hernández Estrada, Adolfo; Biencinto López, Chantal-María; Martínez-Fernández, María Luisa; Barrúz, Pilar; Santos-Simarro, Fernando; Mori-Álvarez, María Ángeles; Mansilla, Elena; García-Santiago, Fé Amalia; Valcorba, Isabel; Sáenz-Rico De Santiago, María Belén; Martínez-Frías, María Luisa; Lapunzina, Pablo

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

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Official URL

https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595/full

Publication date

2021

Advisors (or tutors)

Sáenz-Rico De Santiago, María Belén

Julian Nevado Blanco

Editors

Katalin Komlosi, Medical Center – University of Freiburg, Germany

Publisher

Front. Genet., Sec. Human and Medical Genomics

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URI

https://hdl.handle.net/20.500.14352/100143

Citation

Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML and Lapunzina P. (2021). Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome. Front. Genet. 12(645595). doi: 10.3389/fgene.2021.645595

Abstract

Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri duChat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male andfemale individuals

Description

Esta publicación se deriva de la Tesis Doctoral de Dña Cristina Bell Fenellos defendida en la Universidad Complutense de Madrid. Cuyos directores de Tesis Doctoral han sido los profesores Belen Sáenz-Rico de Santiago y Julian Nevado Blanco. Investigación con un enfoque interdisciplinar necesario al tratarse de un estudio cuya población es una enfermedad rara.