New Term Request: Microcephaly, short stature, and limb abnormalities

[vjenkinsFB]

I'd like to request a term for microcephaly, short stature, and limb abnormalities.

OMIM: https://omim.org/entry/617604. DONSON is also associated with a more severe phenotype, https://www.omim.org/entry/251230 Microcephaly-micromelia syndrome.

Potential definition: Microcephaly, short stature, and limb abnormalities has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22.

Potential parent term: syndrome. OMIM doesn’t put this in the Meier-Gorlin phenotypic series, you’ll need to decide what you think about this.

Synonyms: MISSLA, DONSON-related Meier-Gorlin syndrome

ClinVar search term: DONSON AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C4539873/

MalaCards page: https://www.malacards.org/card/microcephaly_short_stature_and_limb_abnormalities

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/2993

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/31407851/ Karaca E, Posey JE, Bostwick B, et al. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019;179(10):2056-2066. doi:10.1002/ajmg.a.61315
• https://pubmed.ncbi.nlm.nih.gov/31784481/ Knapp KM, Sullivan R, Murray J, et al. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet. 2020;57(3):195-202. doi:10.1136/jmedgenet-2019-106396

FlyBase paper(s) to curate with this term: FBhh0000902, FBhh0000901

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for microcephaly, short stature, and limb abnormalities, @vjenkinsFB.

We'll review it, get back to you soon and update the DO for the next release.

[lschriml]

added: DOID:0081431