Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

Corrêa, Thiago; Feltes, Bruno César; Riegel, Mariluce

doi:10.1590/1678-4685-gmb-2018-0173

Cited by 21 publications

(22 citation statements)

References 82 publications

(98 reference statements)

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“…MRPL3 is one of the recently discovered hub genes associated with acute mountain sickness, which may be used as a biomarker and therapeutic target for an accurate diagnosis and treatment in the future [ 7 ]. MRPL36 is significantly associated with the meow syndrome by analyzing the protein interaction network [ 36 ]. Moreover, MRPs can have a positive effect on the treatment of diseases.…”

Section: Mrps Associated With Diseases Except Cancersmentioning

confidence: 99%

Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases

Huang

Zhang

2020

IJMS

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Mammalian mitochondrial ribosomes translate 13 proteins encoded by mitochondrial genes, all of which play roles in the mitochondrial respiratory chain. After a long period of reconstruction, mitochondrial ribosomes are the most protein-rich ribosomes. Mitochondrial ribosomal proteins (MRPs) are encoded by nuclear genes, synthesized in the cytoplasm and then, transported to the mitochondria to be assembled into mitochondrial ribosomes. MRPs not only play a role in mitochondrial oxidative phosphorylation (OXPHOS). Moreover, they participate in the regulation of cell state as apoptosis inducing factors. Abnormal expressions of MRPs will lead to mitochondrial metabolism disorder, cell dysfunction, etc. Many researches have demonstrated the abnormal expression of MRPs in various tumors. This paper reviews the basic structure of mitochondrial ribosome, focuses on the structure and function of MRPs, and their relationships with cell apoptosis and diseases. It provides a reference for the study of the function of MRPs and the disease diagnosis and treatment.

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Section: Mrps Associated With Diseases Except Cancersmentioning

confidence: 99%

Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases

Huang

Zhang

2020

IJMS

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“…Cri-du-chat syndrome is a congenital syndrome associated with deletion of part of the short arm of chromosome 5 [10][11][12]. Deletions can vary in size from extremely small to the entire short arm.…”

Section: Discussionmentioning

confidence: 99%

Genetic developmental disability diagnosed in adulthood: a case report

2021

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Background Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues. Case presentation In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor. Conclusions This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

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“…In Spain, it is estimated that there are around 500-700 patients (Rodríguez-Caballero et al, 2012, and unpublished data from patient's Associations). It has been suggested that the great phenotypic variability observed among individuals with this syndrome is related to both the size and the location of the deletion (between 5p15.3 and 5p15.2 bands), since it is a chromosomal region with a large gene content (Nguyen et al, 2015;Correa et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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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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Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

Cited by 21 publications

References 82 publications

Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases

Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases

Genetic developmental disability diagnosed in adulthood: a case report

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

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