A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype

Jain, Shailly; Yang, Ping; Farrell, Sandra A.

doi:10.1016/j.ejmg.2009.12.006

Cited by 22 publications

(15 citation statements)

References 5 publications

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“…However, these patients have a 2.4‐MB deletion, which includes at least 10 additional genes, suggesting that this could be a contiguous deletion syndrome, with several genes in this region contributing to abnormalities in the patients. In addition, since a number of patients have been found to have less severe abnormalities or to be unaffected, it is possible that additional mutations can contribute to variable expressivity (Jain et al, ). Similar observations have been found in TAR and 22q11.2 syndrome (Albers et al, ; McDonald‐McGinn et al ).…”

Section: Discussionmentioning

confidence: 99%

During Embryogenesis, Esrp1 Expression Is Restricted to a Subset of Epithelial Cells and Is Associated With Splicing of a Number of Developmentally Important Genes

Revil

Jerome-Majewska

2013

Developmental Dynamics

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Background: Development of a mature organism from a single cell requires a series of important morphological changes, which is in part regulated by alternative splicing. In this article, we report the expression of Esrp1 during early mouse embryogenesis, a splicing factor implicated in epithelial to mesenchymal transitions. Results: By qRT-PCR, we find higher expression of Esrp1 and Esrp2 in placenta compared to the embryos. We also find a correlation between the expression of Esrp1 and alternative splicing of several known target exons. Using in situ RNA hybridization we show that while Esrp1 expression is ubiquitous in embryonic day (E)6.5 mouse embryos, expression becomes restricted to the chorion and definitive endoderm starting at E7.5. Esrp1 expression was consistently restricted to a subset of epithelial cell types in developing embryos from E9.5 to E13.5. Conclusions: Our results suggest that Esrp1 could play an important role in the morphological changes underlying embryogenesis of the placenta and embryo. Developmental Dynamics 242:281-290, 2013. V C 2012 Wiley Periodicals, Inc.Key words: alternative splicing; ESRP1; ESRP2; embryogenesis; placenta; endoderm; pharyngeal pouches Key Findings:The splicing factors Esrp1 and Esrp2 are differentially expressed in a time-and tissue-dependent manner during mouse embryogenesis. The expression of Esrp1 correlates with the alternative splicing of Cask-1, Dock-7 and Osbpl3. Using in situ RNA hybridization, we show that expression of Esrp1 is ubiquitous in E6.5 embryos, then becomes restricted to the chorion and definitive endoderm at E7.5. Esrp1 expression is restricted in a subset of epithelial cell types in later staged mouse embryos.

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Section: Discussionmentioning

confidence: 99%

During Embryogenesis, Esrp1 Expression Is Restricted to a Subset of Epithelial Cells and Is Associated With Splicing of a Number of Developmentally Important Genes

Revil

Jerome-Majewska

2013

Developmental Dynamics

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“…However these genes were also deleted in the patient without NMFLS reported by Jain et al The latter report identified a new restricted critical region of 1.5 Mb (94.8-96.34 Mb). Three new potential candidate genes were discussed: AK128161, a non-coding RNA with unknown function, DKFZp779L1068 and BC089453, two possible coding genes [Jain et al, 2010]. However, these genes were deleted in our patient without NMFLS.…”

Section: Discussionmentioning

confidence: 89%

“…Cocoon syndrome is a rare recessive autosomic, polymalformative, and lethal syndrome that has been described in only four fetuses with facial malformations, hypoplastic eyeballs, and underdeveloped limbs which are bound to the trunk and encased under the skin. Comparison of deletion size of the common region described by Raas-Rothschild et al [2009] (red bars) and Jain et al [2010] (blue bar) in NMLFS and the deletion in our patient (green bar). In 2 fetuses, truncating mutation in the CHUK gene has been identified and resulted in the complete loss of CHUK protein expression [Lahtela et al, 2010].…”

Section: Discussionmentioning

confidence: 96%

“…Several known copy number polymorphisms are included but they do not cover the whole critical region (Database of genomic variants). Three new potential candidate genes were discussed: AK128161, a non-coding RNA with unknown function, DKFZp779L1068 and BC089453, two possible coding genes [Jain et al, 2010]. Figure 3 illustrates the genes located in the 8q22.1 region, which were proposed to be associated to NMFLS.…”

Section: Discussionmentioning

confidence: 99%

“…A recent report of a patient affected by autism, without NMFLS, presenting an 8q22.1 deletion of 1.6 Mb with breakpoints of 94.8-96.4 Mb permitted to reduce the critical region for NMFLS from position 93. [Jain et al, 2010]. We describe here a second case with an 8q21.3-8q22.1 microdeletion from position 89.21-94.3 Mb without NMFLS phenotype, further reducing the NMFLS critical region from 94.3 to 94.8 Mb (hg18).…”

Section: Introductionmentioning

confidence: 87%

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A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome

Debost‐Legrand¹,

Eymard-Pierre

Pebrel‐Richard

et al. 2012

American J of Med Genetics Pt A

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Microdeletions of 8q21.3-8q22.1 have been identified in all patients with Nablus mask-like facial syndrome (NMLFS). A recent report of a patient without this specific phenotype presented a 1.6 Mb deletion in this region that partially overlapped with previously reported 8q21.3 microdeletions, thus restricting critical region for this syndrome. We report on another case of an 8q21.3 deletion revealed by array comparative genome hybridization (aCGH) in a 4-year-old child with global developmental delay, autism, microcephaly, but without Nablus phenotype. The size of the interstitial deletion was estimated to span 5.2 Mb. By combining the data from previous reports on 8q21.3-8q22.1 deletions and our case, we were able to narrow the critical region of Nablus syndrome to 0.5 Mb. The deleted region includes FAM92A1, which seems to be a potential candidate gene in NMLFS.

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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

Kuechler

Buysse

Clayton‐Smith

et al. 2011

American J of Med Genetics Pt A

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High-resolution microarray technology has facilitated the detection of submicroscopic chromosome aberrations and characterization of new microdeletion syndromes. We present clinical and molecular data of five patients with previously undescribed overlapping interstitial deletions involving 8q22.2q22.3. All deletions differ in size and breakpoints. Patients 1-4 carry deletions between 5.25 and 6.44 Mb in size, resulting in a minimal deletion overlap of 3.87 Mb (from 100.69 to 104.56 Mb; hg18) comprising at least 25 genes. These patients share similar facial dysmorphisms with blepharophimosis, telecanthus, epicanthus, flat malar region, thin upper lip vermillion, down-turned corners of the mouth, and a poor facial movement/little facial expression. They have a moderate to severe developmental delay (4/4), absent speech (3/4), microcephaly (3/4), a history of seizures (3/4), postnatal short stature (2/4), and a diaphragmatic or hiatal hernia (2/4). Patient 5 was diagnosed with a smaller deletion of about 1.92 Mb (containing nine genes) localized within the deletion overlap of the other four patients. Patient 5 shows a different facial phenotype and a less severe mental retardation. In Patients 1-4, COH1 is involved in the deletion (in total or in part), but none of them showed clinical features of Cohen syndrome. In two patients (Patients 2 and 4), ZFPM2 (also called FOG2, a candidate gene for congenital diaphragmatic hernias) was partly deleted. We suggest that patients with a microdeletion of 8q22.2q22.3 may represent a clinically recognizable condition characterized particularly by the facial phenotype and developmental delay. More patients have to be evaluated to establish a phenotype-genotype correlation. © 2011 Wiley-Liss, Inc.

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A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype

Cited by 22 publications

References 5 publications

During Embryogenesis, Esrp1 Expression Is Restricted to a Subset of Epithelial Cells and Is Associated With Splicing of a Number of Developmentally Important Genes

During Embryogenesis, Esrp1 Expression Is Restricted to a Subset of Epithelial Cells and Is Associated With Splicing of a Number of Developmentally Important Genes

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

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