A new case of proximal monosomy 1p36, extending the phenotype

Rudnik‐Schöneborn, Sabine; Zerres, Klaus; Häusler, M; Lott, Alexandra; Krings, Timo; Schüler, H

doi:10.1002/ajmg.a.32405

Cited by 12 publications

(24 citation statements)

References 10 publications

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“…Since children carrying terminal and proximal 1p36 deletions often have postnatal growth deficiency, and Rere eyes3/eyes3 mice were noted to have decreased body size, we examined the somatic growth of Rere om/eyes3 mice [1], [6], [7], [21]. At E17.5 and E18.5, the sizes and weights of Rere om/eyes3 embryos were not statistically different from those of their wild-type littermates (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Since individuals with 1p36 deletions can have microcephaly and CNS anomalies and Rere om/om embryos have open neural tube defects, we examined Rere om/eyes3 mice for evidence of abnormal brain development [1], [6], [7]. We specifically focused our attention on brain development from E17.5 to postnatal day 0 (P0) to avoid any secondary effects which could be caused by postnatal growth deficiency.…”

Section: Resultsmentioning

confidence: 99%

“…Cognitive impairment is the most common feature seen in patients with 1p36 deletions [1], [6], [7]. It is well established that the hippocampus plays a key role in learning and memory [28], [29].…”

Section: Resultsmentioning

confidence: 99%

“…Sensorineural hearing loss has been documented in children with both terminal and proximal interstitial 1p36 deletions 1,7. To determine if RERE deficiency can cause hearing loss in mice, we examined the startle responses of wild-type, Rere +/eyes3 , Rere +/om and Rere om/eyes3 littermates at P21 to a 108 dB sound burst at 19.9 kHz emitted from a click box, a common screening test for severe hearing loss.…”

Section: Resultsmentioning

confidence: 99%

“…Early cytogenetic studies suggested that the genes responsible for most of these individual phenotypes were located in the distal region of chromosome 1p36 [5]. However, similar phenotypes–including cognitive impairment, postnatal growth deficiency, brain anomalies, seizures, delayed motor development, hearing loss, cardiovascular defects, and cardiomyopathy–have been seen in individuals with isolated interstitial deletions involving a non-overlapping section of the proximal region of chromosome 1p36 [6], [7]. The smallest reported deletion of this region spans ∼2.9 Mb [6].…”

Section: Introductionmentioning

confidence: 99%

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An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

et al. 2013

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Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency, structural brain anomalies, seizures, cognitive impairment, delayed motor development, behavior problems, hearing loss, cardiovascular malformations, cardiomyopathy, and renal anomalies. The proximal 1p36 genes that contribute to these defects have not been clearly delineated. The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in this region and encodes a nuclear receptor coregulator that plays a critical role in embryonic development as a positive regulator of retinoic acid signaling. Rere-null mice die of cardiac failure between E9.5 and E11.5. This limits their usefulness in studying the role of RERE in the latter stages of development and into adulthood. To overcome this limitation, we created an allelic series of RERE-deficient mice using an Rere-null allele, om, and a novel hypomorphic Rere allele, eyes3 (c.578T>C, p.Val193Ala), which we identified in an N-ethyl-N-nitrosourea (ENU)-based screen for autosomal recessive phenotypes. Analyses of these mice revealed microphthalmia, postnatal growth deficiency, brain hypoplasia, decreased numbers of neuronal nuclear antigen (NeuN)-positive hippocampal neurons, hearing loss, cardiovascular malformations–aortic arch anomalies, double outlet right ventricle, and transposition of the great arteries, and perimembranous ventricular septal defects–spontaneous development of cardiac fibrosis and renal agenesis. These findings suggest that RERE plays a critical role in the development and function of multiple organs including the eye, brain, inner ear, heart and kidney. It follows that haploinsufficiency of RERE may contribute–alone or in conjunction with other genetic, environmental, or stochastic factors–to the development of many of the phenotypes seen in individuals with terminal and interstitial deletions that include the proximal region of chromosome 1p36.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

et al. 2013

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Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child

Lamônica¹,

Abramides²,

Maximino³

et al. 2009

American J of Med Genetics Pt A

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We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.

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Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo‐lethality

Nicoulaz

Rubi

Lieder

et al. 2011

American J of Med Genetics Pt A

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Monosomy 1p36 results from heterozygous deletions of the terminal short chromosome 1 arm, the most common terminal deletion in humans. The microdeletion is split in two usually non-overlapping and clinically distinct classical distal and proximal 1p36 monosomy syndromes. Using comparative genome hybridization, MLPA and qPCR we identified the largest contiguous ∼16 Mb terminal 1p36 deletion reported to date. It covers both distal and proximal regions, causes a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, highlighting the key importance of the gene-rich distal region for the "compound" 1p36 phenotype and a threshold deletion-size effect for haplo-lethality.

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A new case of proximal monosomy 1p36, extending the phenotype

Cited by 12 publications

References 10 publications

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo‐lethality

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