Two Novel &lt;b&gt;&lt;i&gt;COH1&lt;/i&gt;&lt;/b&gt; Mutations in an Italian Patient with Cohen Syndrome

Athanasakis, Emmanouil; Fabretto, Antonella; Faletra, Flavio; Mocenigo, M; Morgan, Anna; Gasparini, Paolo

doi:10.1159/000338816

Cited by 4 publications

(4 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Eventually, splicing mutations can disrupt the original splice-sites and generate new ones [ 30 , 31 ], like in the mutations c.4320+4A>G (patient 5) and c.5575-1G>A (patient 8) ( Figure 1 , Table 1 ). In patient 5, an expansion of four nucleotides in exon 19 could be observed that disrupted the reading frame.…”

Section: Discussionmentioning

confidence: 99%

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Teresa-Rodrigo

Eckhold

Puisac

et al. 2014

IJMS

View full text Add to dashboard Cite

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ΔE10, ΔE12, ΔE33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame.

show abstract

Section: Discussionmentioning

confidence: 99%

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Teresa-Rodrigo

Eckhold

Puisac

et al. 2014

IJMS

View full text Add to dashboard Cite

show abstract

“…507,508 Cohen syndrome consists of abnormal facies, cognitive impairment, and retinal dystrophy in association with neutropenia and results from mutations in the VPS13B (vacuolar protein sorting 13 homolog B) gene, which is important for lysosome function. 509 Neutropenia also arises from mutations in the gene encoding the late endosomal/lysosomal adaptor mitogenactivated protein kinase and MTOR activator 2 (LAMTOR2), which is also important for lysosome function. 510 Finally, the syndrome of poikiloderma with neutropenia arises from mutations in the U6 snRNA biogenesis 1 (USB1) gene, which encodes a nuclear RNA processing enzyme.…”

Section: Phagocytic Cell Defectsmentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

562

494

View full text Add to dashboard Cite

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

show abstract

“…The majority of them are stop or frameshift mutations with five affecting the same region as in our family. Missense and intronic mutations resulting in aberrant splicing have also been identified . VPS13B is a Golgi‐associated peripheral membrane protein co‐localizing with the cis ‐Golgi matrix protein GM130 .…”

Section: Discussionmentioning

confidence: 99%

“…Missense and intronic mutations resulting in aberrant splicing have also been identified. 3,20 VPS13B is a Golgi-associated peripheral membrane protein co-localizing with the cis-Golgi matrix protein GM130. 8 Two retinitis pigmentosa disease genes, RP2 and RPGR, localize to the Golgi, and depletion of RP2 leads to abnormal Golgi function and protein transport in the photoreceptor.…”

Section: Discussionmentioning

confidence: 99%

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

Prokudin

Liu

et al. 2014

Clinical Exper Ophthalmology

View full text Add to dashboard Cite

Background: Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myopia, pigmentary retinopathy, joint hypermobility, truncal obesity, friendly disposition and intermittent neutropenia. In young patients, diagnosis is difficult, because several of the characteristic features may not be present until school age or later years and the intermittent neutropenia is not always detectable.

show abstract

Two Novel <b><i>COH1</i></b> Mutations in an Italian Patient with Cohen Syndrome

Cited by 4 publications

References 19 publications

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Practice parameter for the diagnosis and management of primary immunodeficiency

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

Contact Info

Product

Resources

About