Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Maydan, Gal; Noyman, Iris; Har‐Zahav, Adi; Neriah, Ziva Ben; Pasmanik‐Chor, Metsada; Yeheskel, Adva; Albin-Kaplanski, Adi; Maya, Idit; Magal, Nurit; Birk, Efrat; Simon, Amos J.; Halevy, Ayelet; Rechavi, Gideon; Shohat, Mordechai; Straussberg, Rachel; Basel‐Vanagaite, Lina

doi:10.1136/jmg.2010.087114

Cited by 141 publications

(161 citation statements)

References 31 publications

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“…Homozygous mutations in PIGN have been reported in patients with autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS; OMIM 614080). 27 BP1-BP2 deletion in 15q11.2 has been reported in patients with schizophrenia, epilepsy, and ASDs, 28,29 and it could contribute to Asperger syndrome observed in our patient 6.…”

Section: Discussionsupporting

confidence: 48%

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Wiśniowiecka‐Kowalnik¹,

Kastory-Bronowska

Bartnik³

et al. 2012

Eur J Hum Genet

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Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population. ASDs have a complex multifactorial etiology, with genetic causes being recognized in only 10-20% of cases. Recently, copy-number variants (CNVs) have been shown to contribute to over 10% of ASD cases. We have applied a custom-designed oligonucleotide array comparative genomic hybridization with an exonic coverage of over 1700 genes, including 221 genes known to cause autism and autism candidate genes, in a cohort of 145 patients with ASDs. The patients were classified according to ICD-10 standards and the Childhood Autism Rating Scale protocol into three groups consisting of 45 individuals with and 69 individuals without developmental delay/intellectual disability (DD/ID), and 31 patients, in whom DD/ID could not be excluded. In 12 patients, we have identified 16 copy-number changes, eight (5.5%) of which likely contribute to ASDs. In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). Our results further confirm the diagnostic importance of array CGH in detection of CNVs in patients with ASDs and demonstrate that CNVs are an important cause of ASDs as a heterogeneous condition with a variety of contributory genes.

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Section: Discussionsupporting

confidence: 48%

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Wiśniowiecka‐Kowalnik¹,

Kastory-Bronowska

Bartnik³

et al. 2012

Eur J Hum Genet

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“…La consultation des banques Une mutation faux-sens de PIGN a été associée au syndrome polymalformatif HPMR (hyperphosphatasé-mie et retard mental) de transmission récessive [9]. Les patients décèdent tôt au cours de leur vie et il est donc impossible de savoir si ils présentent une prédis-position au cancer.…”

Section: Identification Des Bases Génétiques De La Cinunclassified

Instabilité chromosomique et cancer, enfin des CIN révélateurs

2013

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aneusomies segmentaires et pourraient donc être à la base de la majorité des cas de CIN. Reste que la distinction, parmi les mécanismes moléculaires responsables de la CIN, entre défauts prémitotiques ou mitotiques, méritait d'être abordée de manière systé-matique ; c'est ce qui a été entrepris par le groupe britannique dont les résultats ont été récemment publiés dans la revue Nature [3]. Stress réplicatif, une condition « CINe qua non » pour l'instabilité chromosomiqueAfin de discriminer si la CIN est due à une défaillance de mécanismes prémitotiques ou mitotiques, l'équipe britannique a réalisé une analyse d'images d'anaphases à haute résolution sur une série de cellules de lignées de cancers colorectaux (CRC) avec CIN (CIN+) ou sans CIN (CIN-). Une quantification des aberrations chromosomiques observées a montré que la majorité de celles-ci consistaient en des chromosomes acentriques ou des ponts anaphasiques. De plus, aucun défaut notable de la fonction du point de contrôle de mitose ou de la cohésion des chromatides soeurs, ni aucune augmentation significative du nombre de fuseaux mitotiques multipolaires n'ont été observés dans les lignées CIN+. Ainsi, la première conclusion surprenante de ce travail était que les défauts chromosomiques spécifiques à la CIN évo-quaient un dérèglement de type prémitotique.

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“…A defect in the addition of the first ethanolamine phosphate group to GPI has been recently associated with the multiple congenital anomalies-hypotonia-seizures syndrome [93]. The GPI ethanolamine phosphate transferase-1 enzyme is encoded by the PIGN gene (OMIM ID: 606097) (Fig.…”

Section: Pign Proteinmentioning

confidence: 99%

Diseases of glycosylation beyond classical congenital disorders of glycosylation

Hennet

2012

Biochimica et Biophysica Acta (BBA) - General Subjects

117

103

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BACKGROUND: Diseases of glycosylation are rare inherited disorders, which are often referred to as congenital disorders of glycosylation (CDG). Several types of CDG have been described in the last decades, encompassing defects of nucleotide-sugar biosynthesis, nucleotide-sugar transporters, glycosyltransferases and vesicular transport. Although clinically heterogeneous, most types of CDG are associated with neurological impairments ranging from severe psychomotor retardation to moderate intellectual disabilities. CDG are mainly caused by defects of N-glycosylation, owing to the simple detection of under-glycosylated serum transferrin by isoelectric focusing. SCOPE OF REVIEW: In the last years, several disorders of O-glycosylation, glycolipid and glycosaminoglycan biosynthesis have been described, which are known by trivial names not directly associated with the family of CDG. The present review outlines 64 gene defects affecting glycan biosynthesis and modifications, thereby underlining the complexity of glycosylation pathways and pointing to unexpected phenotypes and functional redundancies in the control of glycoconjugate biosynthesis. MAJOR CONCLUSIONS: The increasing application of whole-genome sequencing techniques unravels new defects of glycosylation, which are associated to moderate forms of mental disabilities. GENERAL SIGNIFICANCE: The knowledge gathered through the investigation of CDG increases the understanding of the functions associated to protein glycosylation in humans. This article is part of a Special Issue entitled Glycoproteomics.

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Cited by 141 publications

References 31 publications

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Instabilité chromosomique et cancer, enfin des CIN révélateurs

Diseases of glycosylation beyond classical congenital disorders of glycosylation

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