Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

Guilherme, Romain; Guimiot, Fabien; Tabet, Anne‐Claude; Khung‐Savatovsky, Suonavy; Gauthier, E.; Nouchy, Marc; Benzacken, Brigitte; Verloes, Alain; Oury, Jean-FranÃ§ois; Delezoide, Anne‐Lise; Aboura, Azzedine

doi:10.1002/ajmg.a.33135

Cited by 5 publications

(8 citation statements)

References 16 publications

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“…Although left‐sided diaphragmatic hernia was identified in Patient 2, the duplication does not encompass the previously suggested critical region which is more telomeric. Our Patient 2 and the fetus reported by Guilherme et al [] indicate a region of interest for diaphragmatic hernia in 2p16.3 between 49.5 Mb and 52 Mb. Termination of pregnancy at 23 weeks of gestation in the patient reported by Guilherme et al [] makes a more specific phenotypic comparison difficult.…”

Section: Discussionsupporting

confidence: 55%

“…Mégarbané et al [] reviewed the literature for patients with duplication in 2p and found inconsistent phenotypes. However, breakpoints in only few patients were defined by molecular array techniques [Guilherme et al, ; Kasnauskiene et al, ]. Several authors describe growth retardation, cardiopulmonary malformations, and depending on the latter, poor life expectancy.…”

Section: Discussionmentioning

confidence: 99%

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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Blassnig-Ezeh

Bandelier

Frühmesser

et al. 2013

American J of Med Genetics Pt A

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Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals were an 8-year-3-month-old boy with a direct duplication of approximately 14.6 Mb harboring 63 genes, and a 12-year-old girl with a direct duplication of around 9.6 Mb harboring 48 genes. Both patients have severe growth retardation, delayed bone age, prominent veins on trunk and extremities, total IGF1 level in the low range, mild developmental delay, and facial dysmorphism such as relative macrocephaly, a broad and prominent forehead, and a large anterior fontanelle. Comparison with patients previously reported in the literature and in the DECIPHER 5.1 and ECARUCA databases indicates a common region of interest of around 1.9 Mb responsible for most of the features. Two candidate genes (EPAS and RHOQ), may be particularly relevant for the marked growth retardation and developmental delay.

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Blassnig-Ezeh

Bandelier

Frühmesser

et al. 2013

American J of Med Genetics Pt A

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“…Chromosome 2 is rich in genes, and the more frequently detected chromosomal alterations are segmental duplications [Lurie et al, 1995;Magee et al, 1998;Gruchy et al, 2007;Guilherme et al, 2009]. This indicates that large deletions are most likely lethal and that the 2p region is highly sensitive to the loss of genetic material.…”

Section: Discussionmentioning

confidence: 99%

“…There are very few reports on patients with isolated de novo interstitial duplications partly overlapping with 2p14-p16.1 or 2p16.1-p22.1 and manifesting in mental retardation and variable dysmorphic features ( fig. 4 ) [Yunis et al, 1979;Say et al, 1980;Fryns et al, 1989;Parruti et al, 1989;Heathcote et al, 1991;Sawyer et al, 1994;Mégarbané et al, 1997;Dobyns et al, 2008;Guilherme et al, 2009]. In addition, molecular analysis was performed in very few previously reported cases [Dobyns et al, 2008;Guilherme et al, 2009], and the involvement of other chromosomal rearrangements could not be excluded.…”

Section: Discussionmentioning

confidence: 99%

“…4 ) [Yunis et al, 1979;Say et al, 1980;Fryns et al, 1989;Parruti et al, 1989;Heathcote et al, 1991;Sawyer et al, 1994;Mégarbané et al, 1997;Dobyns et al, 2008;Guilherme et al, 2009]. In addition, molecular analysis was performed in very few previously reported cases [Dobyns et al, 2008;Guilherme et al, 2009], and the involvement of other chromosomal rearrangements could not be excluded. Therefore, the detailed clinical and molecular presentation of the 2 new and rare cases of de novo interstitial duplications on chromosome 2p14-p22.1 in this report will provide a significant contribution to the scientific community.…”

Section: Discussionmentioning

confidence: 99%

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Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

Kasnauskienė¹,

Utkus²,

Čiuladaitė³

et al. 2012

Cytogenet Genome Res

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We provide a detailed clinical and molecular analysis of 2 patients with de novo interstitial duplications at 2p14–p16.1 and 2p16.1–p22.1. The 10.13-Mb duplication of chromosome 2p14–p16.1 was identified in a 9-year-old boy with mental retardation, behavioral problems (hyperactivity, hyperphagia, and subsequent vomiting), recurrent respiratory tract infections, macrocephaly, epilepsy, and dysmorphic features. The 17.49-Mb duplication of 2p16.1–p22.1 was found in a 17-year-old girl with moderate mental retardation, behavioral and emotional problems, anxiety, and facial dysmorphic features. Very few cases of de novo interstitial duplication of 2p14–p22.1 are reported in the literature, with the great majority of them lacking a detailed molecular analysis. The abnormal phenotype of these cases is caused by mechanisms such as the overdose of a duplicated gene (or genes), the disruption of a gene or its regulatory sequence by the breakpoints of duplication, or by an excess of genetic material which may disorganize chromatin conformation affecting distant gene expression. The clinical and molecular analysis of these 2 rare de novo interstitial duplications provides useful information which is extremely valuable for clinical evaluation at the prenatal and postnatal level and for the molecular understanding of the underlying mechanisms of human diseases.

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

Lezirovitz

Vieira-Silva

Batissoco

et al. 2020

Human Molecular Genetics

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Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to four uncharacterized long non-coding (lnc) RNA genes and part of a novel protein-coding gene. Quantitative analysis of mRNA expression in blood samples revealed selective overexpression of CNRIP1 and of two lncRNA genes (LOC107985892 and LOC102724389) in all affected members tested, but not in unaffected ones. Qualitative analysis of mRNA expression identified also fusion transcripts involving parts of PPP3R1, CNRIP1 and an intergenic region between PLEK and CNRIP1, in the blood of all carriers of the duplication, but were heterogeneous in nature. By in situ hybridization and immunofluorescence, we showed that Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea including the spiral ganglion neurons, suggesting changes in expression levels of these genes in the hearing organ could underlie the DFNA58 form of deafness. Our study highlights the value of studying rare genomic events leading to HL, such as copy number variations. Further studies will be required to determine which of these genes, either coding proteins or non-coding RNAs, is or are responsible for DFNA58 HL.

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Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

Cited by 5 publications

References 16 publications

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

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