Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis

Mo, Ran; Xu, Zhe; Wang, Huijun; Yan, Wei; Xue-xiang, Jiang; Lin, Zhimiao

doi:10.1001/jamadermatol.2021.0748

Cited by 2 publications

(2 citation statements)

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“…[13][14][15][16] Those affected individuals showed the characteristics of CGHT, with gingival hyperplasia, coarse facial appearance with bushy and dark eyebrows, broad and flat nose and thickened lips, macrocephaly, and wide-spaced teeth. 7,[13][14][15][16] In humans, ABCA5 has been identified as a biomarker for tumour stem cells in osteosarcoma based on its overexpression, and it is also strongly expressed in melanoma and in undifferentiated colon and ovarian carcinomas. [17][18][19] None of the affected members of our family had any feature related to any of these cancers.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to these two homozygous disease-causing variants, a few copy number variations in the chromosomal region 17q24.2-q24.3 containing ABCA5, associated with autosomal dominant hypertrichosis, have also been reported (Supplementary Table S2). [13][14][15][16] Those affected individuals showed the characteristics of CGHT, with gingival hyperplasia, coarse facial appearance with bushy and dark eyebrows, broad and flat nose and thickened lips, macrocephaly, and wide-spaced teeth. 7,[13][14][15][16] In humans, ABCA5 has been identified as a biomarker for tumour stem cells in osteosarcoma based on its overexpression, and it is also strongly expressed in melanoma and in undifferentiated colon and ovarian carcinomas.…”

Section: Discussionmentioning

confidence: 99%

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Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Raza

Ullah

Haider

et al. 2022

Clinical and Experimental Dermatology

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Summary Background Hereditary hypertrichosis (HH) is characterized by excessive hair growth on various body areas, which is independent of the individual's age. This rare hair disorder has been classified by its origin (genetic or acquired), age of onset, breadth of hair distribution (universal or localized) and the affected body areas. HH is often linked to several additional congenital abnormalities involving teeth, heart and bones. Human HH is associated with heterozygous genomic duplications and deletions in the chromosomal region 17q24.2–q24.3, containing genes such as ABCA5, ABCA6, ABCA10 and MAP2K6. Recently, a homozygous splice‐site variant in ABCA5 has been reported to cause autosomal recessive congenital generalized hypertrichosis terminalis (CGHT; OMIM 135400). Aim To investigate the clinical and genetic basis of autosomal recessive hypertrichosis in a large consanguineous Pakistani family. Methods In the present study, we characterized a family of Pakistani origin segregating CGHT in an autosomal recessive pattern, using whole exome sequencing followed by Sanger sequencing Results We identified a novel 2‐bp intragenic deletion [NM_172232.4(ABCA5);c.977_978delAT] causing a frameshift variant (p.His326ArgfsTer5) in ABCA5. Conclusions To our knowledge, this is the first intragenic deletion in ABCA5 underlying CGHT. The findings further validate the involvement of ABCA5 in hair development. The study will facilitate genetic counselling of families carrying CGHT‐related features in Pakistani and other populations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Raza

Ullah

Haider

et al. 2022

Clinical and Experimental Dermatology

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Acquired Disorders of Hair

Harries,

Holmes,

McMichael

et al. 2024

Rook's Textbook of Dermatology

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This chapter reviews acquired hair disorders, including common scarring and non‐scarring alopecia presentations, conditions characterised by excessive body hair growth and acquired hair shaft disorders. We also describe the biology of normal hair follicles, including structure, hair cycle control and immunity, to better understand the mechanisms underlying these conditions. We present methods for clinical assessment, recommended investigation and management of each disease, and present summaries of frequently used therapeutics and cosmetic options employed when treating these problems.

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Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis

Cited by 2 publications

References 7 publications

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Acquired Disorders of Hair

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