RT Journal Article
T1 Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
A1 Nevado, Julian
A1 Bel Fenellos, María Cristina
A1 Sandoval-Talamantes, Ana Karen
A1 Hernández Estrada, Adolfo
A1 Biencinto López, Chantal-María
A1 Martínez-Fernández, María Luisa
A1 Barrúz, Pilar
A1 Santos-Simarro, Fernando
A1 Mori-Álvarez, María Ángeles
A1 Mansilla, Elena
A1 García-Santiago, Fé Amalia
A1 Valcorba, Isabel
A1 Sáenz-Rico De Santiago, María Belén
A1 Martínez-Frías, María Luisa
A1 Lapunzina, Pablo
A2 Katalin Komlosi, Medical Center – University of Freiburg, Germany
AB 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
PB Front. Genet., Sec. Human and Medical Genomics
SN 1664-8021
YR 2021
FD 2021-07-30
LK https://hdl.handle.net/20.500.14352/100143
UL https://hdl.handle.net/20.500.14352/100143
LA spa
NO 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
NO 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.
DS Docta Complutense
RD 21 ago 2024