De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

doi:10.1002/ajmg.a.70162

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Article

De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

American journal of medical genetics. Part A - 1 Sept 2026

Niehaus Annie D, Bonner Devon E, Carter Jennefer, Avello Kayleigh, Jacob Natalie, Neu Matthew B, Mendez Rodrigo, Qiao Wanqiong, Scott Stuart A, Levy Rebecca J, Mattas Lauren, Schymick Jennifer, Van Andel Michael, Muntoni Francesco, Mueller Juliane, Sarkozy Anna, DiTroia Stephanie, O'Leary Melanie, Neale Ashana, O'Donnell-Luria Anne, Toro Camilo, Wolfe Lynne A, Martinez-Agosto Julian A, Montgomery Stephen B, Wheeler Matthew T, Bernstein Jonathan A, Tise Christina G

Abstract excerpt

The vast majority of individuals with autosomal recessive (AR) conditions demonstrate biparental inheritance of the disease-causing alleles; however, de novo variants also contribute to AR disease. This report represents the largest cohort to-date of rare AR conditions in which one of the disease-causing alleles was inherited and one occurred de novo. Clinical and research staff at Stanford University, clinical...

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PMID: 42002855
DOI: 10.1002/ajmg.a.70162

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