DONSON

Chr 21AR

DNA replication fork stabilization factor DONSON

Also known as: B17, C21orf60, MGORS10, MIMIS, MISSLA

NCBI Gene: 29980 ENSG00000159147 UniProt: Q9NYP3 OMIM: 611428

DONSON encodes a replisome component that maintains genome stability by protecting stalled or damaged replication forks and is required for efficient cell-cycle checkpoint activation. Biallelic mutations cause autosomal recessive Meier-Gorlin syndrome and microcephaly-micromelia syndrome, characterized by prenatal-onset growth restriction affecting head circumference, stature, and limb development. The gene shows minimal constraint against loss-of-function variants in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

ARLOEUF 0.913 OMIM phenotypes

Clinical Summary— DONSON

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

49 unique Pathogenic / Likely Pathogenic· 130 VUS of 314 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — DONSON

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.91LOEUF

pLI 0.000

Z-score 1.92

OE 0.59 (0.39–0.91)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.24Z-score

OE missense 0.96 (0.86–1.06)

239 obs / 249.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.59 (0.39–0.91)

0≤0.351.4

Missense OE?0.96 (0.86–1.06)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 15 / 25.5Missense obs/exp: 239 / 249.8Syn Z: -0.08

ClinVar Variant Classifications

314 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31

Likely Pathogenic18

VUS130

Likely Benign96

Benign17

Conflicting11

Pathogenic

Likely Pathogenic

130

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	23	5	3	0	31
Likely Pathogenic	14	4	0	0	18
VUS	1	119	8	2	130
Likely Benign	0	8	37	51	96
Benign	0	4	9	4	17
Conflicting	—				11
Total	38	140	57	57	303

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

63 pathogenic / likely-pathogenic (of 71) ClinVar copy-number / structural variants overlap DONSON — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →