FOXL2 @ medgen.ugent.be/LOVD/

When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

FOXL2 @ medgen.ugent.be/LOVD/

Back

Sequence variant tables - Search sequence variants

Total results: 3.

Exon

DNA: Allele 1

RE-Site

RNA

Protein

Frequency

Disease

Reference

DNA/RNA

Technique

FOXL2db-ID

Remarks

DNA allele 1 (Crisponi et al. 2001)

Phenotype

Clinical data

Ethnic origin

Geographic origin

Domain

RNA Sequence Change

RNA Frame Change

Protein Sequence Outcome

Submicroscopic del incl. FOXL2

BPES

De Baere et al. 2003, Beysen et al. 2005

DNA, metaphase spreads

MLPA, Microsatellite analysis, FISH analysis

FOXL2_00196

Extent of the deletion max. 3.2 Mb

Familial

Son had psychomotor and growth retardation and high arched palate; father had growth retardation, no clinical data about psychomotor development are available

Caucasoid/Europoid

Submicroscopic del incl. FOXL2

BPES

De Baere et al. 2003, Beysen et al. 2005

DNA, metaphase spreads

MLPA, microsatellite analysis, FISH analysis

FOXL2_00197

Total FOXL2 and ATR del; extent of the deletion > 3.8 Mb

Sporadic, type unknown

BPES in 11-y old male with psychomotor retardation, widely spaced nipples, scoliosis, high arched palate and umbilical hernia

Caucasoid/Europoid

Submicroscopic del incl. FOXL2

BPES

Beysen et al. 2005

Genomic DNA

MLPA, microsatellite analysis

FOXL2_00204

Total FOXL2 del; ATR normal; extent of the deletion: max. 2.7 Mb

Sporadic, type unknown

1.5-y-old female with abnormal nose, normal psychomotor development, and no growth retardation; ultrasound of uterus and ovaries was normal

Caucasoid/Europoid

Total results: 3. Showing results 1 to 3.

Legend: [ full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committe for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: exon numbering. DNA allele 1: variation at DNA-level (allele 1). If present, "Full Details" will show you the the full-length entry. "Show all records" will show you similar entries. RE-site: variation creates (+) or destroys (-) restriction enzyme recognition sequence. RNA: variation at RNA-level (allele 1), (?) unknown but probably identical to DNA. Frequency: frequency of polymorphism. Protein: variation at protein level. Disease: disease phenotype, as reported in paper/by submitter, unless modified by the curator (if so, see Remarks column). Reference: publication describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. DNA/RNA: variation detected in RNA or DNA. Technique: technique used to detect the variation. For a full list of techniques, see the full legend. FOXL2db-ID: FOXL2 database IDentifier; if present, links to OMIM ID's are provided. Remarks: Listings in bold italics indicate compound heterozygous patients with both mutated alleles known. Consequently, the case is mentioned twice in this table.