We describe here a novel, heterozygous FOXG1 mutation in a patient with atypical Rett syndrome with early-onset developmental delay and multiple seizure types. Considering the broad spectrum of FOXG1 -related phenotypes and consistent yield in gene analysis, FOXG1 mutation assay would be helpful in determining genetic causes in patients who present with severe mental retardation and microcephaly at a very early age with negative MECP2 and CDKL5 mutation screening. Conclusively, we report low but significant incidence of FOXG1 mutation in patients with atypical Rett syndrome in the Korean population. Hum Mutat. Parental DNA was also collected and tested for the presence of the identified variant. The novel FOXG1 variant. Eur J Hum Genet. Unique features: Individuals with a Rett syndrome-like disorder each have distinct facial abnormalities.
Genetics: FOXG1 mutations underlie atypical Rett syndrome screened for copy number variations (CNVs) — duplications or deletions of DNA. Rett syndrome (RTT) is a severe neurodevelopmental disease that affects The congenital variant is 1 of the 5 subgroups of atypical RTT, and Duplication of the chromosomal region encompassing FOXG1 has been first.
Among these cases, the minimal common duplicated region on chromosome of FOXG1 have been associated with a Rett-like syndrome.
Am J Hum Genet. FOXG1-related disorders: from clinical description to molecular genetics.
Video: Atypical rett syndrome foxg1 duplication Neurobiology of Rett Syndrome and Related Disorders
Author information Article notes Copyright and License information Disclaimer. Notably, the patient had intractable seizures, initially presenting as dialeptic seizures starting in her eighth month.
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. A novel point mutation in the FOXG1 gene was identified in 1 of the 11 patients who were clinically diagnosed with atypical Rett syndrome Figure 1. A method and server for predicting damaging missense mutations.
FOXG1-Related Syndrome: A Distinct Entity from Rett Syndrome (RTT) The clinical features of typical RTT are neurodevelopmental regression The clinical characteristics of FOXG1 duplications and deletion or intragenic.
We had previously analyzed the MECP2 gene and the CDKL5 gene by direct sequencing and multiple ligand probe amplification for these 11 patients and discovered no mutations in either gene in each patient.
Overall, the study suggests that individuals with alterations to FOXG1 expression have more variable symptoms than previous studies have suggested. We also note early-onset, multiple-type, intractable seizures that have not been observed in other reported cases.
However, a congenital form of the syndrome, seen in both boys and girls, has been linked to mutations and deletions in FOXG1. Gln70Pro mutation in the patient DNA.
MLPA based techniques Atypical Rett syndrome. Atypical Rett syndrome is a neurodevelopmental disorder identified in Five males have a duplication of MECP2, two males have a deletion of FOXG1 and one.
Atypical Rett Syndrome Is it really more common in females
MECP2-related disorders include classic Rett syndrome, atypical (or variant) Rett syndrome, and When should testing for MECP2 duplication syndrome be considered? When should testing for CDKL5 or FOXG1 variants be considered?
Twenty reported pathogenic variants and their positions are indicated. Eur J Hum Genet. Christine K.
The clinical features of the other 10 patients, who had no identifiable genetic causes, are summarized in Table 1. Because MeCP2 is located on the X chromosome, Rett syndrome is generally fatal in boys and primarily seen in girls.
Of the 80, 2 carry a mutation in FOXG1 that disrupts a portion of the protein sequence.