NM_023067.4(FOXL2):c.855_871dup (p.His291fs) AND BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000005142.4

Allele description [Variation Report for NM_023067.4(FOXL2):c.855_871dup (p.His291fs)]

NM_023067.4(FOXL2):c.855_871dup (p.His291fs)

Gene:

FOXL2:forkhead box L2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q22.3

Genomic location:

Preferred name:

NM_023067.4(FOXL2):c.855_871dup (p.His291fs)

HGVS:

NC_000003.12:g.138945852_138945868dup17
NC_000003.12:g.138945863_138945879dup
NG_012454.1:g.6273_6289dup
NG_029796.1:g.3630_3646dup
NM_023067.4:c.855_871dupMANE SELECT
NP_075555.1:p.His291fs
LRG_1295t1:c.855_871dup
LRG_1295:g.6273_6289dup
LRG_1295p1:p.His291fs
NC_000003.11:g.138664693_138664694insGGGGGTGCGGCGGAGGC
NC_000003.11:g.138664705_138664721dup
NM_023067.3:c.855_871dup17
p.(His291ArgfsTer71)
p.[His291Argfs*71]

Note:

NCBI staff reviewed the sequence information reported in PubMed 11175783 Fig. 2a to determine the location of this allele on the current reference sequence.

Protein change:

H291fs

Links:

OMIM: 605597.0014; dbSNP: rs797044532

NCBI 1000 Genomes Browser:

rs797044532

Molecular consequence:

NM_023067.4:c.855_871dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
Synonyms:: Blepharophimosis syndrome type 1; BPES type 1; BPES with premature ovarian failure; See all synonyms [MedGen]
Identifiers:: MedGen: C2931135

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025319	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 11175783, 12938087, 11776388

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025319

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2003)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G.

Nat Genet. 2001 Feb;27(2):159-66.

PubMed [citation]

PMID:: 11175783

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

Udar N, Yellore V, Chalukya M, Yelchits S, Silva-Garcia R, Small K; BPES Consortium..

Hum Mutat. 2003 Sep;22(3):222-8.

PubMed [citation]

PMID:: 12938087

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025319.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In 3 affected members of a family with BPES type I (110100), Crisponi et al. (2001) reported a duplication of 17 bp at position 1092-1108 (1092_1108dup17), causing a frameshift resulting in a shorter protein. In a mutation search by direct sequencing in 9 affected individuals representing familial or sporadic cases, Udar et al. (2003) found this mutation in 3 unrelated pedigrees. There is a proline tract at this position, and the mutation results in a His291fsTer361 frameshift. A deletion mutation involving the same 17 bases was reported in a Japanese BPES patient by Yamada et al. (2001); see (605597.0007).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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