FOXG1 Proband Entry
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: 2018-06-26 10:38:56
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