FOXG1 Proband Entry



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Entry ID: fp42

Systematic name: c.506dup

Protein name: p.Lys170Glnfs*285

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - sporadic

Other mutation: N

Chromosomal abnormality: Yes - 320 kb deletion at 8p22, inherited from asymptomatic father, unlikely to be related to phenotype

Method of testing: direct, exon 1

Source of DNA: not stated

Familial testing: healthy parents did not carry FOXG1 mutation

Control screening: No

dbSNP ID:

Source: De Bruyn, C., Vanderhasselt, T., Tanyalcin, I., Keymolen, K., Van Rompaey, K.L., De Meirleir, L., Jansen, A.C. (2014) Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. European Journal of Paediatric Neurology 18:420-426. Pubmed ID: 24388699

Publication ID:

Comments:

Entry last updated on: 2015-12-02 01:19:28

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