Mutations in the hairless gene underlie APL in three families of Pakistani origin

Kraemer, Liv; Wajid, Muhammad; Shimomura, Yutaka; Christiano, Angela M.

doi:10.1016/j.jdermsci.2007.10.012

Cited by 8 publications

(3 citation statements)

References 20 publications

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“…Based on current mutations, the correlations between type and location of HR mutations and phenotype are difficult to establish. Hypopigmented streaks have been described in two Arab, two Moroccan, one Australian, one Caucasian and one Korean families [2,19,20,21,22,23,24], which shows that atrichia patients share whitish streaks not particular to Arab origin, first described in 2002 [2]. The hallmark manifestation has occurred in Australoid, Xanthochroic and Mongoloid, which favors the universality of this abnormality.…”

Section: Discussionmentioning

confidence: 95%

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Wang

Tu²,

Feng³

et al. 2013

Dermatology

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Background: Congenital atrichia with papular lesions (APL) is characterized by complete absence of body hair shortly after birth, along with papules, and caused by mutations in the hairless gene (HR). Objective: To investigate whether APL with HR mutations might also be found among patients in non-consanguineous Chinese families and to discuss the phenotypic variations with the same mutations. Methods: DNA sequencing of the HR was performed in the Chinese pedigree and in 100 controls. Results: A nonsense mutation c.T2265A in the patient and his father as well as a 2bp deletion (3482delCT) in the patient and his mother were detected. Conclusion: Our study identified the first mutation in exon 10 in HR as well as the second novel compound heterozygous mutations in a Chinese family, also adding new variants to the knowledge of HR mutations in APL. Phenotypic heterogeneity in congenital atrichia might be subject to the founder genes or modifier genes.

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Section: Discussionmentioning

confidence: 95%

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Wang

Tu²,

Feng³

et al. 2013

Dermatology

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“…The database of allelic series continues to expand as more than 30 different nonsense, missense, insertion, and deletion mutations have been reported in the HR gene. 4,8 Although the majority of cases of APL involve homozygous mutations, sporadic cases of compound heterozygous mutations in nonconsanguineous families have been identified over the past decade. 1,4,9-12…”

Section: Discussionmentioning

confidence: 99%

A Newborn With Hair Loss

Fyall

Fine

Morrell

2013

Clin Pediatr (Phila)

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“…[ 6 ] Mutations in the human hairless gene located on Chromosome 8p21.2 encoding a putative Zinc finger transcription factor have been studied. [ 7 8 ] Gene mutations for vitamin D receptor, causing vitamin D-dependent rickets, cause a similar clinico-histological phenotype. [ 9 10 ]…”

Section: Discussionmentioning

confidence: 99%

Atrichia with papular lesions

et al. 2011

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Atrichia with papular lesions (APL) is a rare autosomal recessive form of irreversible alopecia with onset at few months of age with papular keratin cysts over the body. It is associated with mutation in the Zinc finger domain of the human hairless gene on chromosome region 8p12. An eleven-year-old male presented with extensive alopecia starting at six months of age refractory to the treatment along with keratotic papules on the face and trunk. Biopsy from a papule showed mid-dermal keratin cysts and from the scalp showed few vellus follicles with no terminal hairs. The diagnosis of APL was made based upon the criteria proposed. Vitamin D-dependent rickets was ruled out as it has similar clinical presentation. Accurate diagnosis of APL is required to avoid unnecessary treatment to the patient as it is commonly misdiagnosed as alopecia universalis and treated with systemic steroids.

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Mutations in the hairless gene underlie APL in three families of Pakistani origin

Cited by 8 publications

References 20 publications

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

A Newborn With Hair Loss

Atrichia with papular lesions

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