Frontiers in Genetics (Jul 2021)

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

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

DOI
https://doi.org/10.3389/fgene.2021.645595
Journal volume & issue
Vol. 12

Abstract

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Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat 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 and female individuals.

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