Full Monosomy 21: Echocardiographic Findings in the Third Molecularly Confirmed Case

Fisher, Donald; DiPietro, Amy; Murdison, Kenneth A.; Lemieux, Carolyne

doi:10.1007/s00246-012-0334-4

Cited by 13 publications

(8 citation statements)

References 5 publications

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“…A recent clinical investigation determined that the disorder of chromosome 21 monosomy also results in cardiac defects, including hypoplastic and hypertrophied left ventricle and atrial as well as ventricular septal defects (Fisher et al, 2013). Recent work in mice investigating congenital heart disease in individuals with DS exclude Chd5 from the minimal region that induces congenital heart disease upon duplication (Liu et al, 2011a).…”

Section: Chd5 Has Distinct Dual Functions During Developmentmentioning

confidence: 99%

Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity

et al. 2014

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The identification and characterization of the cellular and molecular pathways involved in the differentiation and morphogenesis of specific cell types of the developing heart are crucial to understanding the process of cardiac development and the pathology associated with human congenital heart disease. Here, we show that the cardiac transcription factor CASTOR (CASZ1) directly interacts with congenital heart disease 5 protein (CHD5), which is also known as tryptophanrich basic protein (WRB), a gene located on chromosome 21 in the proposed region responsible for congenital heart disease in individuals with Down's syndrome. We demonstrate that loss of CHD5 in Xenopus leads to compromised myocardial integrity, improper deposition of basement membrane, and a resultant failure of hearts to undergo cell movements associated with cardiac formation. We further report that CHD5 is essential for CASZ1 function and that the CHD5-CASZ1 interaction is necessary for cardiac morphogenesis. Collectively, these results establish a role for CHD5 and CASZ1 in the early stages of vertebrate cardiac development.

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Section: Chd5 Has Distinct Dual Functions During Developmentmentioning

confidence: 99%

Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity

et al. 2014

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“…DS and M21 are complex genetic conditions that arise from an altered dosage of genes on human chromosome 21 (Hsa21). Full M21 is rare and generally not compatible with life, with only a few cases reported in literature, and the oldest case survived for only a few days after birth [ 1 – 5 ]. The remaining M21 cases are partial deletion or mosaics.…”

Section: Introductionmentioning

confidence: 99%

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

et al. 2015

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The trisomy of human chromosome 21 (Hsa21), which causes Down syndrome (DS), is the most common viable human aneuploidy. In contrast to trisomy, the complete monosomy (M21) of Hsa21 is lethal, and only partial monosomy or mosaic monosomy of Hsa21 is seen. Both conditions lead to variable physiological abnormalities with constant intellectual disability, locomotor deficits, and altered muscle tone. To search for dosage-sensitive genes involved in DS and M21 phenotypes, we created two new mouse models: the Ts3Yah carrying a tandem duplication and the Ms3Yah carrying a deletion of the Hspa13-App interval syntenic with 21q11.2-q21.3. Here we report that the trisomy and the monosomy of this region alter locomotion, muscle strength, mass, and energetic balance. The expression profiling of skeletal muscles revealed global changes in the regulation of genes implicated in energetic metabolism, mitochondrial activity, and biogenesis. These genes are downregulated in Ts3Yah mice and upregulated in Ms3Yah mice. The shift in skeletal muscle metabolism correlates with a change in mitochondrial proliferation without an alteration in the respiratory function. However, the reactive oxygen species (ROS) production from mitochondrial complex I decreased in Ms3Yah mice, while the membrane permeability of Ts3Yah mitochondria slightly increased. Thus, we demonstrated how the Hspa13-App interval controls metabolic and mitochondrial phenotypes in muscles certainly as a consequence of change in dose of Gabpa, Nrip1, and Atp5j. Our results indicate that the copy number variation in the Hspa13-App region has a peripheral impact on locomotor activity by altering muscle function.

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“…There is a report of a patient who died after 3 days of life with multiple alterations including a left pulmonary artery aneurysm, decreased left ventricular function, and full monosomy 21, which was detected by karyotyping, FISH, and aCGH [Shah et al, 2010;Fisher et al, 2013]. A further report of a patient who died after the first day of life, with multiple congenital malformations, also presented with full monosomy 21 in which subtle chromosomal translocations of chromosome 21 were ruled out by FISH [Mori et al, 2004].…”

mentioning

confidence: 99%

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

Malinverni

Coelho²,

Chen³

et al. 2017

Cytogenet Genome Res

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Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

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Full Monosomy 21: Echocardiographic Findings in the Third Molecularly Confirmed Case

Cited by 13 publications

References 5 publications

Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity

Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature

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