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NM_001202.6(BMP4):c.171dup (p.Glu58fs) AND Microphthalmia with brain and digit anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2011
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:
RCV000022457.25

Allele description [Variation Report for NM_001202.6(BMP4):c.171dup (p.Glu58fs)]

NM_001202.6(BMP4):c.171dup (p.Glu58fs)

Gene:
BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q22.2
Genomic location:
Preferred name:
NM_001202.6(BMP4):c.171dup (p.Glu58fs)
HGVS:
  • NC_000014.9:g.53952052dup
  • NG_009215.1:g.9785dup
  • NM_001202.6:c.171dupMANE SELECT
  • NM_001347912.1:c.312dup
  • NM_001347913.2:c.-19dup
  • NM_001347914.2:c.171dup
  • NM_001347915.2:c.-19dup
  • NM_001347916.1:c.171dup
  • NM_001347917.1:c.-19dup
  • NM_130850.5:c.171dup
  • NM_130851.4:c.171dup
  • NP_001193.2:p.Glu58fs
  • NP_001334841.1:p.Glu105fs
  • NP_001334843.1:p.Glu58fs
  • NP_001334845.1:p.Glu58fs
  • NP_570911.2:p.Glu58fs
  • NP_570912.2:p.Glu58fs
  • NC_000014.8:g.54418770dup
Protein change:
E105fs
Links:
OMIM: 112262.0008; dbSNP: rs2140238150
NCBI 1000 Genomes Browser:
rs2140238150
Molecular consequence:
  • NM_001347913.2:c.-19dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001347915.2:c.-19dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001347917.1:c.-19dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001202.6:c.171dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001347912.1:c.312dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001347914.2:c.171dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001347916.1:c.171dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130850.5:c.171dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130851.4:c.171dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Microphthalmia with brain and digit anomalies (MCOPS6)
Synonyms:
Microphthalmia syndromic 6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011936; MedGen: C1864689; Orphanet: 139471; OMIM: 607932

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043746OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2011) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV.

Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22.

PubMed [citation]
PMID:
21340693
PMCID:
PMC3178759

Details of each submission

From OMIM, SCV000043746.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 3.5-year-old Caucasian girl with bilateral clinical anophthalmia, small ears, and small left renal cyst (MCOPS6; 607932), Reis et al. (2011) identified heterozygosity for a 1-bp duplication (171dupC) in exon 2 of the BMP4 gene, predicted to cause a frameshift and premature termination. The proband had normal development, without craniofacial dysmorphism or anomalies of the hands or feet. Head CT in the neonatal period showed significantly small globes, minimal ocular tissue, and absent optic nerves, but otherwise normal brain structures. Her affected 9-year-old maternal half sister was found to be compound heterozygous for 171dupC and a 362A-G transition in exon 2 of BMP4, resulting in a his121-to-arg (H121R; 112262.0009) substitution at a conserved residue. The sister had unilateral clinical anophthalmia, blepharophimosis, telecanthus, and bilateral postaxial polydactyly of the hands. She had poor growth, with height and weight less than the 3rd centile, and relative macrocephaly with frontal bossing. Head CT showed atrophic left globe and small left orbit. Their asymptomatic mother was heterozygous for the frameshift mutation, with no evidence of mosaicism; the mutation was apparently de novo, as the maternal grandparents carried wildtype BMP4 alleles. The mother was unavailable for examination, so mild ocular anomalies could not be ruled out, and the father was also unavailable for study. Neither mutation was found in 179 Caucasian, 89 African American, 91 Asian, and 93 Hispanic controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023