Abnormal myelination in a patient with deletion 14q11.2q13.1

Ramelli, Gian Paolo; Remonda, Luca; Lövblad, K O; Hirsiger, Hans; Moser, Hans

doi:10.1016/s0887-8994(00)00169-7

Cited by 17 publications

(11 citation statements)

References 12 publications

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“…There is no brain imaging data available for the first patient described by Grammatico et al (1994); however, MRI and CT studies on this second deletion patient (Schuffenhauer et al 1999) indicated agenesis of the corpus callosum, asymmetric development of the ventricles, and reduced total brain volume, all of which correlate with the clinical findings in our patient. Precise molecular descriptions are lacking for the other previously described patients with such neurological phenotypes and associated 14q11-13 deletions (Ramelli et al 2000;Su et al 2004); such studies may further support our hypothesis that heterozygous loss of FOXG1Bplays a causal role in various brain disorders.…”

Section: Discussionsupporting

confidence: 73%

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

et al. 2005

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We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb inversion in chromosome 14q12. By combined fluorescence in situ hybridisation and Southern hybridisation, the distal inversion breakpoint on chromosome 14 was mapped to a region harbouring genes and ESTs derived predominantly from brain tissue. RT-PCR studies indicated that these transcripts comprise the 3' ends of novel splice variants of the winged helix transcription factor FOXG1B (also referred to in previous studies as FOXG1A and FOXG1C, as well as Brain Factor 1), the mouse orthologue of which is essential for normal development of the telencephalon. Analysis of these novel FOXG1B transcripts indicated that they are all disrupted by the breakpoint in the patient. Moreover, we have identified novel orthologous Foxg1 transcripts in the mouse and other vertebrates, which validates the functional importance of these variants and provides a direct genetic link between the patient phenotype and that of the heterozygous Foxg1 knockout mice. These results, together with previously published studies on patients with similar disorders and proximal 14q deletions, strongly suggest that several disorders associated with malformations of the human brain may be directly caused by mutations or alterations in the FOXG1B gene.

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Section: Discussionsupporting

confidence: 73%

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

et al. 2005

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“…No molecular characterisation is available for four other published patients, precluding molecular genotype-phenotype correlations. However, some phenotypic features found in our patients were also noted among these patients, including psychomotor delay, 13 hypotonia, 11 13 alternating esotropia, 13 micrognathia 11 and other facial dysmorphisms. 9 11 Two unpublished patients with cytogenetic deletions of 14q11.2 were found in the online Chromosome Abnormality Database (http://www.ukcad.org.…”

Section: Discussionsupporting

confidence: 65%

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Zahir

Firth

Baross

et al. 2007

Journal of Medical Genetics

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“…For patients with a large deletion encompassing additional genes, it is not clear to what extent clinical features are the result of FOXG1 haploinsufficiency. A compilation of all phenotypes associated with FOXG1 mutated alleles shows a high prevalence of specific brain anomalies, including microcephaly, dysgenesis of the corpus callosum, abnormal ventricles and abnormal white matter 11 16 20 21 23 27 30 31 . Foxg1 is essential for correct brain development in the mouse.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

Philippe

Amsallem

Francannet

et al. 2009

Journal of Medical Genetics

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Abnormal myelination in a patient with deletion 14q11.2q13.1

Cited by 17 publications

References 12 publications

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

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