COMPLETE CITATION
Citation and identifiers
Taşdelen E, Tekbaş UC, Kolkıran A, Çetinkaya S, Kılıç M, Sezer A. “Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.” American Journal of Medical Genetics Part A. 200(9):2088–2098 · doi:10.1002/ajmg.a.70231.
- PubMed ID
- 42316479 ↗
RESEARCH QUESTION
Can selected biallelic ASH1L variants produce an allelic or dosage context distinct from established heterozygous haploinsufficiency?
The human cohort places one ASH1L observation within a broader study of atypical biallelic findings, supporting allele-specific follow-up without establishing a general recessive ASH1L disorder.
INTERPRETATION BOUNDARY
Read the finding and limit together.
What this study supports
A retrospective consanguineous exome cohort included an ASH1L observation among selected biallelic findings in genes usually associated with dominant disease. The authors interpreted the ASH1L context as potentially hypomorphic and dosage-sensitive.
What it cannot establish
This selected cohort observation does not establish a broadly recessive ASH1L disorder, a biallelic severity rule, or a contradiction of the established autosomal-dominant haploinsufficiency relationship. The exact alleles and measured functional dosage still determine what can be concluded.
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