Haploinsufficiency of <i>ZNF238</i> is associated with corpus callosum abnormalities in 1q44 deletions

Perlman, Seth J.; Kulkarni, Shashikant; Manwaring, Linda; Shinawi, Marwan

doi:10.1002/ajmg.a.35779

Cited by 31 publications

(24 citation statements)

References 22 publications

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“…The majority (66%) developed seizures. 1, [8][9][10][11][12]15 Incomplete penetrance is a possible explanation for the absence of ACC in this girl, given that the corpus callosum was apparently normal in at least five patients with 1q43q44 microdeletions that included ZBTB18 as described previously. 1,9,12 We note that brainspecific loss of ZBTB18 in mice leads to a small brain phenotype with ACC and cerebellar hypoplasia.…”

Section: Discussionsupporting

confidence: 58%

“…1, 3,[8][9][10][11][12][13][14] Specifically, ZBTB18 has repeatedly been identified as a strong candidate gene for microcephaly and/or ACC. 7,9,11,14,15 ZBTB18 is particularly compelling since a brain-specific knock-out of this gene in mice causes microcephaly and callosal anomalies. 16 However, other studies suggest critical regions that do not include ZBTB18.…”

Section: Introductionmentioning

confidence: 99%

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A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

et al. 2013

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Section: Discussionsupporting

confidence: 58%

Section: Introductionmentioning

confidence: 99%

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

et al. 2013

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“…This is in contrast to 1q43-44 deletion -out of 41 cases where inheritance was documented, only six were inherited (14.63%) [Boland et al, 2007;Hill et al, 2007;Poot et al, 2008;van Bon et al, 2008;Orellana et al, 2009;Caliebe et al, 2010;Ballif et al, 2012;Perlman et al, 2013]. This suggests that the impact of pure AKT3 deletions on reproductive fitness is much less than that of the larger 1q43-44 deletions.…”

Section: Discussioncontrasting

confidence: 71%

Phenotypes of AKT3 deletion: A case report and literature review

Gai

Haan

Scholar

et al. 2014

American J of Med Genetics Pt A

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AKT3 (v-akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. Phenotype and genotype studies of patients with 1q44 deletion syndrome have suggested that deletion of the AKT3 gene is responsible for the microcephaly in these patients. However, the phenotype of pure AKT3 deletion has not been studied. We report on a 1q44 deletion involving only AKT3 in a boy and his father. The boy has microcephaly, hypotonia, feeding difficulties, developmental delay, and minor dysmorphic features. His father does not have microcephaly and is of normal intelligence. We also analyzed the available information on the phenotypes of 13 individuals carrying a pure AKT3 gene deletion identified through literature review and database search. To our knowledge, this is the first report of a paternally inherited pure AKT3 deletion with full clinical description. This is also the first report to suggest that (1) AKT3 deletion is associated with microcephaly and intellectual disability with incomplete penetrance; (2) a pure AKT3 deletion is likely to be inherited in contrast to the larger 1q44 deletions, which are mostly de novo and (3) there seems to be no consistent or characteristic dysmorphism associated with pure AKT3 deletion.

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“…Previous studies have reported that 1q43-q44 CNVs are associated with intellectual disability (also referred to as mental retardation), microcephaly and corpus callosum abnormalities [Boland et al, 2007;van Bon et al, 2008;Caliebe et al, 2010;Nagamani et al, 2012;Perlman et al, 2013]. Given such neurological impairments in our patient (Fig.…”

Section: Q43-q44 Cnvs Are Associated With Neurological Impairmentmentioning

confidence: 64%

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

Hemming

Forrest

Shipman

et al. 2016

American J of Med Genetics Pt B

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Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplication, associated with severe seizures, microcephaly, agenesis of the corpus callosum, and pachygyria, a consequence of defective neuronal migration disorder. We conducted a literature survey to find that our patient is only the second case of such a 1q43-q44 CNV ever to be described. Our data support an association between 1q43-q44 deletions and microcephaly, as well as an association between 1q43-q44 duplications and macrocephaly. We compare and contrast our findings with previous studies reporting on critical 1q43-q44 regions and their constituent genes associated with seizures, microcephaly, and corpus callosum abnormalities [Ballif et al., 2012; Hum Genet 131:145-156; Nagamani et al., 2012; Eur J Hum Genet 20:176-179]. Taken together, our study reinforces the association between 1q43-q44 CNVs and brain disorder.

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Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions

Cited by 31 publications

References 22 publications

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Phenotypes of AKT3 deletion: A case report and literature review

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

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