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Did you mean recessive inheritance?

GlossaryAutosomal Recessive (recessive inheritance)

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 Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations, February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies

3 citations, June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

research Differential Expression of Keratin and Keratin-Associated Proteins Linked with Hair Loss in Spontaneously Mutated Inbred Mice

July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)”

Hair loss in certain mice is linked to changes in keratin-related genes.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations, November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

75 citations, September 2007 in “Journal of Heredity”

FGF5 gene mutations cause long hair in domestic cats.

research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

April 2023 in “Curēus”

The document concludes that the girl's hairlessness is likely inherited from her parents.

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

9 citations, June 2017 in “American journal of ophthalmology. Case reports”

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats

7 citations, May 2021 in “Animal Genetics”

The CORIN gene variant causes the golden color in Siberian cats.

research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity

5 citations, September 1986 in “Pediatric Dermatology”

A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.

research Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl

26 citations, September 1990 in “Ophthalmology”

The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.

research Acromegaloid Facial Appearance: Case Report and Literature Review

6 citations, January 2013 in “Case reports in endocrinology”

The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.

research An Update of Hair Shaft Disorders

12 citations, October 1996 in “Dermatologic clinics”

Advances in genetics may lead to targeted treatments for hair disorders.

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations, November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

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”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

May 2024 in “Frontiers in medicine”

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis

18 citations, January 2020 in “Acta dermato-venereologica”

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

research Biology and Genetics of Hair

89 citations, September 2010 in “Annual Review of Genomics and Human Genetics”

The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

research Molecular Genetics of Alopecias

9 citations, January 2015 in “Current problems in dermatology”

Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.

research Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1

December 2022 in “American journal of medical genetics. Part A”

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies

2 citations, August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

1 citations, January 2022 in “Annals of Dermatology”

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations, October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the KRT85 gene cause hair and nail problems.

research Monilethrix: A Case Report Imaged by Trichoscopy, Reflectance Confocal Microscopy, and Histopathology

1 citations, February 2018 in “Australasian journal of dermatology”

Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.

research Hair and Nail Disorders of Childhood

7 citations, December 2008 in “Expert Review of Dermatology”

The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.