Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix
July 2015
in “
International Journal of Dermatology
”
Research cited in this study
11 / 11 resultsresearch Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
The study identified mutations in the DSG4 gene as the cause of an autosomal recessive form of monilethrix in 12 Jewish families from Iraq, Iran, and Morocco, involving 24 family members, including 15 patients. This form was characterized by fragile, brittle hair and follicular hyperkeratosis, differing from the autosomal dominant form linked to keratin gene mutations. Four different DSG4 mutations were found, with a common haplotype on chromosome 18q among Iraqi patients, suggesting a genetic overlap with localized autosomal recessive hypotrichosis. The study emphasized the role of DSG4 in hair disorders and its implications for genetic counseling, noting the severity of the recessive form with more extensive alopecia and skin manifestations.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
Related Research
7 / 7 resultsresearch Value of Dermoscopy for the Diagnosis of Monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix
research Expression of E6 and E7 papillomavirus oncogenes in the outer root sheath of hair follicles extends the growth phase and bypasses resting at telogen.
research Congenital Hypotrichosis Due to Short Anagen Phase
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research Effects of Epidermal Growth Factor on the Morphology and Patterns of DNA Synthesis in Isolated Human Hair Follicles
EGF makes hair follicles grow longer but stops hair production.
research Diseases of the Hair and Scalp
research Outer root sheath keratinization in anagen and catagen of the mammalian hair follicle. A seventh distinct type of keratinization in the hair follicle: trichilemmal keratinization.
The study described trichilemmal keratinization as a distinct type of keratinization in the hair follicle, characterized by the conversion of the outer root sheath's stratified epithelium into anuclear keratin without a keratohyalin layer. This process was observed in the anagen phase below the sebaceous duct opening and in the catagen phase within the trichilemmal sac. The research, using electron microscopy on dog hairs, revealed complex infoldings of cells and unique ladder-like membrane coating granules in anagen, which were acid phosphatase-positive and potentially involved in the disintegration of the inner root sheath.