Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

March 2006 in “ Journal of Investigative Dermatology ”

Julie V. Schaffer, Hisham Bazzi, Anna Vitebsky, Agnieszka K. Witkiewicz, Olympia I Kovich, Hideko Kamino, Lawrence Shapiro, SNEHAL P. AMIN, Seth J. Orlow, Angela M. Christiano

Desmoglein 4 DSG4 localized autosomal recessive hypotrichosis LAH monilethrix congenital scalp erosions hair follicle differentiation epidermal adhesion

Studysummary Mutations in the DSG4 gene cause specific hair and scalp issues.

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research A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

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research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat

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This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

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A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations , February 2004 in “Genomics”

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

research De Novo Mutations in Monilethrix

26 citations , December 2003 in “Experimental Dermatology”

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders

37 citations , June 2000 in “Experimental dermatology”

This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”

research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair

36 citations , July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology”

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.