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Glossary Autosomal Recessive

inheritance requires two copies of a mutated gene

Autosomal recessive refers to a pattern of inheritance where a person must inherit two copies of a mutated gene, one from each parent, to express a particular trait or disorder. If an individual has only one copy of the mutated gene, they are considered a carrier and typically do not show symptoms. This type of inheritance is common in many genetic disorders, such as cystic fibrosis and sickle cell anemia.

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research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

50 citations , February 2016 in “Journal of Investigative Dermatology”

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient

May 2024 in “Frontiers in medicine”

In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.

research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

13 citations , November 2009 in “Journal of Dermatological Science”

This article discusses various dermatological studies cited by previous authors and reports no new clinical results.

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

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community Efficacy and Tolerability of N-Acetyl-Cysteine for Treatment of The Early-onset Androgenetic Alopecia in Men

26 upvotes 4 years ago

N-Acetyl-Cysteine (NAC) was found to improve hair parameters in men with early-onset androgenetic alopecia, showing increased terminal hair count and decreased vellus hair count, with good tolerability. NAC, used alone or with minoxidil, may help due to its antioxidant properties, though its effectiveness can vary among individuals.

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Hair System Specialist
Jane Genesi
Marlton, PA, United States

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Jane Genesi