MEIS2 Meis homeobox 2

Gene info

Synonyms

MRG1, HsT18361

Previous symbol

None

External ID

HGNC: 7001
Entrez Gene: 4212
Ensembl: ENSG00000134138
UCSC: uc001zjo.5
OMIM: 601740
UniProtKB: O14770

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Coarctation of the aorta
  • Tetralogy of fallot
  • Ebstein anomaly of the tricuspid valve
  • Hypoplastic right heart
  • Mitral valve incompetence

Extra Cardiac Phenotype

Short stature, Failure to thrive, Broad face, Full cheeks, Plagiocephaly, Large forehead, Bitemporal narrowing, High anterior hairline, Large, low-set ears , Bilateral conductive hearing loss, Micrognathia, Arched eyebrows, Laterally extended eyebrows, Sparse eyebrows, Upslanting palpebral fissures, Hypertelorism, Deep-set eyes, Eyelid ptosis, Hypermetropia, Strabismus, Narrow nose with pointed tip, Small nasal alae, Short philtrum, Retrognathia, Cleft palate, Bifid uvula, Tented upper lip, Thin upper vermilion, Full lower vermilion, Congenital lobar emphysema, Severe feeding problems, Gastroesophageal reflux, Duodenal stenosis, Broad thorax with widely spaced and inverted nipples, Elongated tailbone, Genu valgum, Toe-walking, Widebased gait with poor coordination, Scoliosis, Long tapered fingers, Deep-set nails, Puffy hands, Planovalgus, Broad thumbs , Fifth finger clinodactyly, Broad great toe, Sandal gap, Cutaneous syndactyly between second and third toes, Hyperextensible joints, Hypotonia, Dermatitis, Cryptorchidism, Bilateral inguinal hernia, Learning disabilities, Developmental delay, Psychomotor retardation, Intellectual disability, Autism spectrum disorder, Sleep apnea

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

Homozygous null mice have CHD.

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for MEIS2: BED file

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Selected References

  1. Douglas, G., Cho, M. T., Telegrafi, A., Winter, S., Carmichael, J., Zackai, E. H., … Juusola, J. (2018). De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. American Journal of Medical Genetics Part A, 176(9), 1845–1851. DOI:10.1002/ajmg.a.40368 PMID:30055086
  2. Verheije, R., Kupchik, G. S., Isidor, B., Kroes, H. Y., Lynch, S. A., … Breckpot, J. (2018). Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. European Journal of Human Genetics, 27(2), 278–290. DOI:10.1038/s41431-018-0281-5 PMID:30291340
  3. Fujita, A., Isidor, B., Piloquet, H., Corre, P., Okamoto, N., Nakashima, M., … Matsumoto, N. (2016). De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. Journal of Human Genetics, 61(9), 835–838. DOI:10.1038/jhg.2016.54 PMID:27225850
  4. Louw, J. J., Corveleyn, A., Jia, Y., Hens, G., Gewillig, M., & Devriendt, K. (2015). MEIS2involvement in cardiac development, cleft palate, and intellectual disability. American Journal of Medical Genetics Part A, 167(5), 1142–1146. DOI:10.1002/ajmg.a.36989 PMID:25712757