Unknown

Dataset Information

0

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.


ABSTRACT: We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A), in a male patient with congenital Rett syndrome, and the second was the p.Glu154GlyfsX301 (c.460dupG) truncating mutation in a female with classical Rett syndrome, a mutation that was previously reported in an independent patient. The overall rate of FOXG1 mutations in our cohort is 8%. Our findings stress the importance of FOXG1 analysis in male patients with Rett syndrome and in female patients when mutations in the MECP2 and CDKL5 genes have been excluded.

SUBMITTER: Van der Aa N 

PROVIDER: S-EPMC3214958 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC5575846 | biostudies-literature
| S-EPMC2443837 | biostudies-literature
| S-EPMC3641384 | biostudies-literature
| S-EPMC3569103 | biostudies-literature
| S-EPMC6469254 | biostudies-literature
| S-EPMC3831085 | biostudies-literature
| S-EPMC1734556 | biostudies-other
| S-EPMC7608362 | biostudies-literature
| S-EPMC7523042 | biostudies-literature
| S-EPMC4491574 | biostudies-literature