Williams–Beuren syndrome and West “syndrome:” Causal association or contiguous gene deletion syndrome?

Tercero, Miguel Fernández-Burriel; López, José Carlos Cabrera; Herrero, Milagros Marti; Rodríguez-Quiñones, Francisco

doi:10.1002/ajmg.a.30486

Cited by 11 publications

(9 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Epilepsy is considered as infrequent in WBS patients with common deletions, and only three cases with typical deletion and seizures have been published [Tercero et al, ; Myers et al, ; Okamoto et al, ]. However, differently from what is believed to date, three out of four of the eWBS patients in our series carried typical WBSCR, and no deletion included HIP1, YWHAG or MAGI2 .…”

Section: Discussioncontrasting

confidence: 56%

“…Mizugishi et al suggested that genes contained in atypical 7q11.23 deletion could underlying IS in a child with WBS [Mizugishi et al, ]. Conversely, IS were reported in a WBS child harboring a typical, small deletion of the WBSCR [Tercero et al, ]. Recently, deletion of the MAGI2 gene, located approximately 5 Mb distally to the WBSCR, has been related to IS [Marshall et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Recently, deletion of the MAGI2 gene, located approximately 5 Mb distally to the WBSCR, has been related to IS [Marshall et al, ]. Nevertheless, not all patients with deletions of MAGI2 developed IS and at least two cases [Tercero et al, ; Röthlisberger et al, ] with 7q11.23 deletion not involving MAGI2 developed IS.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita

Garone

Spalice

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2.

show abstract

Section: Discussioncontrasting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita

Garone

Spalice

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…More recently, exome‐sequencing in related children allowed identification of a new gene responsible for West syndrome, ST3GAL3 , which was confirmed by functional protein analysis [Edvardson et al, ]. West syndrome can be a symptom of known recurrent microdeletion syndromes, such as Williams or Smith–Magenis syndromes [Tercero et al, ; Hino‐Fukuyo et al, ]. It as also been described in Sotos, Smith–Lemli–Opitz, and Freeman–Sheldon syndromes [e.g., Marion et al, ; Sackey et al, ; Ray et al, ].…”

Section: Introductionmentioning

confidence: 99%

De novo 15q13.3 microdeletion with cryptogenic west syndrome

Lacaze

Gruchy

Penniello-Valette

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome.

show abstract

“…WBS is characterized by numerous physical, cognitive, and behavioral symptoms, 1 but seizures have only rarely been reported and were presumed to be unrelated to the deletion of genes in the critical region. 2 The typical WBS deletion spans a common interval of between 26 and 28 genes, because it arises due to unequal meiotic recombination between highly similar flanking nucleotide sequences. 3 Larger WBS-associated deletions have been reported and they often have one breakpoint that is similar to those associated with the common deletion.…”

mentioning

confidence: 99%

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Marshall

Young

Pani

et al. 2008

The American Journal of Human Genetics

111

View full text Add to dashboard Cite

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse.

show abstract

Williams–Beuren syndrome and West “syndrome:” Causal association or contiguous gene deletion syndrome?

Cited by 11 publications

References 15 publications

Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

De novo 15q13.3 microdeletion with cryptogenic west syndrome

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Contact Info

Product

Resources

About