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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/
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Sequence variant tables - Search sequence variants
Total results: 43.
 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 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. 2001   Genomic DNA   SEQ   FOXL2_00058       g.909_938dup   Familial, type 2   5-generation BPES type 2 pedigree, affected females transmit disease.   Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. 2001   Genomic DNA   SEQ   FOXL2_00059       g.909_938dup   Familial, type 2   2-generation BPES type 2 family, affected mother transmits BPES to daughter.   Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. 2001   Genomic DNA   SEQ   FOXL2_00060       g.909_938dup   Sporadic, type unknown   BPES in sporadic male, de novo.   Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2001   Genomic DNA   SEQ   FOXL2_00061       g.909_938dup   Familial, type 2   4-generation BPES type 2 family (Small et al. 1995)   Caucasoid/Europoid   US   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2001   Genomic DNA   SEQ   FOXL2_00062       g.909_938dup   Sporadic, type unknown   BPES in 5-year old male patient.   Caucasoid/Europoid   IT   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2001   Genomic DNA   SEQ   FOXL2_00063       g.909_938dup   Sporadic, type unknown   BPES in 17-year old female patien (no endocrinological data)   Caucasoid/Europoid   US   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Ramirez-Castro et al. 2002   Genomic DNA   SEQ   FOXL2_00064       g.909_938dup   Familial, type 2   3-generation BPES type 2 pedigree. Affected female transmits disease.       CO   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Ramirez-Castro et al. 2002   Genomic DNA   SEQ   FOXL2_00065       g.909_938dup   Familial, type 2   3-generation BPES type 2 pedigree. Affected female transmits disease.       CO   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00066       g.909_938dup   Familial, type 2   3-generation BPES type 2 pedigree.   Caucasoid/Europoid   DE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00067       g.909_938dup   Familial, type unknown   2-generation BPES pedigree (male-to-male transmission).   Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. 2003   Genomic DNA   SEQ   FOXL2_00068       g.909_938dup   Sporadic, type unknown   BPES in 10-year old sporadic female, de novo.   Caucasoid/Europoid   FR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Dollfus et al. 2003   Genomic DNA   SEQ   FOXL2_00069       g.909_938dup   Familial, type unknown   BPES in Algerian father and prepubertal son and daughter.       DZ   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Dollfus et al. 2003   Genomic DNA   SEQ   FOXL2_00070       g.909_938dup   Sporadic, type unknown   BPES in 25-year old male patient.       DZ   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00071       g.909_938dup   Familial, type 2   Irregularity of periods, difficulty in conceiving.   Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00072       g.909_938dup   Familial, type 2       Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00073       g.909_938dup   Sporadic, type unknown       Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00074       g.909_938dup   Sporadic, type unknown       Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Crisponi et al. (2002)   Genomic DNA   SEQ   FOXL2_00075       g.909_938dup   Familial, type unknown       Unknown       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00111       g.909_938dup   Sporadic, type unknown   BPES in 8-y old female patient. Associated feature: mild 2/3 skin syndactyly   Caucasoid/Europoid   GB   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00112       g.909_938dup   Sporadic, type unknown   BPES in 3-y male sporadic patient   Caucasoid/Europoid   NL   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00113       g.909_938dup   Sporadic, type unknown   BPES in 31-y sporadic female. Pregnancy after IVF treatment at 31 y. No hypergonadotrophic hypogonadism.   Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00114       g.909_938dup   Sporadic, type unknown   BPES in 12-y old male patient, pediatric Burkitt lymphoma   Caucasoid/Europoid   NL   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00115       g.909_938dup   Familial, type 2   2-generation BPES pedigree; affected female has unaffected child at 30 y, oligomenorrhea, irregular cycles, FSH borderline high.   Caucasoid/Europoid   NO   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00132       g.909_938dup   Sporadic, type unknown   BPES in 3-year old female sporadic patient   Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00133       g.909_938dup   Familial, type 2   3-generation BPES type 2 family. Two affected female transmit the disease   Mongoloid   KR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00135       g.909_938dup   Familial, type unknown   2-generation BPES pedigree (male tot male transmission)   Mongoloid   KR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00136       g.909_938dup   Familial, type unknown   2-generation BPES pedigree (male-to-male transmission)   Mongoloid   KR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00137       g.909_938dup   Familial, type 2   4-generation BPES type 2 family. Two affected females transmit the disease   Mongoloid   KR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Cha et al. 2003   Genomic DNA   SEQ   FOXL2_00138       g.909_938dup   Sporadic, type unknown   BPES in 12-y old female sporadic patient   Mongoloid   KR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00160       g.909_938dup   Familial, type 2   2-generation BPES type II pedigree. Affected female transmits disease   Caucasoid/Europoid   IT-BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00161       g.909_938dup   Sporadic, type unknown   BPES in 18-m old sporadic female patient   Caucasoid/Europoid       Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00162       g.909_938dup   Sporadic, type 2   BPES in 31-y sporadic female patient   Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00163       g.909_938dup   Sporadic, type 1   BPES in 37-y old sporadic female, menarche at 13 years, very infrequent and irregular menses, one spontaneous conception at 34   Caucasoid/Europoid   UK   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00164       g.909_938dup   Familial, type unknown   1-y old and 4-y old sisters with BPES   Caucasoid/Europoid   AU   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00165       g.909_938dup   Familial, type 2   2-generation BPES type II family, affected mother transmits BPES to son   Caucasoid/Europoid   FI   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00177       g.909_938dup   Unknown       Mongoloid   SE   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00178       g.909_938dup   Sporadic, type 1   BPES and POF in 35-y old female   Caucasoid/Europoid   FR   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Nallathambi et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00182       g.909_938dup   Familial, type 2   3-generation BPES type II family   Unknown   IN   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES and bilateral Duane syndrome   Vincent et al. 2005   Genomic DNA   SEQ   FOXL2_00183       g.909_938dup   Sporadic, type unknown   BPES and Duane syndrome in 18-m old sporadic female patient   Caucasian   NZ   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00184       g.909_938dup   Sporadic, type unknown   BPES in a 1-year old sporadic female patient. She also has a small apical muscular ventricular septal heart defect.    Caucasoid/Europoid   BE   Polyala   Insertion   Inframe   Internal insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   Genomic DNA   SEQ   FOXL2_00185       g.909_938dup   Familial, type unknown   BPES in 4-year old male patient and his 29-year old father    Caucasoid/Europoid   NL   Polyala   Insertion   Inframe   Internal insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   Mari et al., 2006   DNA   SEQ   FOXL2_00239       g.909_938dup   Sporadic   BPES in male patient with mild syndactyly between the 2nd and 3rd toe bilaterally, a broas and flat nasal bridge, high vaulted and narrow palate and an asymmetry in the maxillary region.    Caucasoid/Europoid   IT   Polyala   Insertion   Inframe   Internal Insertion 
 01   c.672_701dup           p.Ala224_Ala234dup       BPES   De Baere et al. (unpublished)   DNA   SEQ   FOXL2_00258       g.909_938dup   Familial, type unknown   2-generation BPES family. Affected 36-y old male transmits the disease to his 2 daughters.    Caucasoid/Europoid   US   polyAla   Insertion   Inframe   Internal insertion 
Total results: 43. Showing results 1 to 43.


 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.

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