Prevalent founder mutation c.736T&gt;A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood

Tanahashi, Kana; Sugiura, Kazumitsu; Takeichi, Takuya; Takama, Hiroyuki; Shinkuma, Satoru; Shimizu, Hiroshi; Akiyama, Masashi

doi:10.1111/j.1468-3083.2012.04526.x

Cited by 14 publications

(17 citation statements)

References 10 publications

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“…All 14 cases were homozygous or compound heterozygous for the 2 prevalent LIPH mutations, c.736T>A and c.742C>A, in the Japanese population. Previous reports [5], [6], [8], [9] found all Japanese ARWH cases to be caused by homozygous c.736T>A mutations or compound heterozygous c.736T>A and c.742C>A mutations of LIPH . However, in our study, 1 case (Patient 14) had a homozygous c.742C>A mutation of LIPH .…”

Section: Discussionmentioning

confidence: 91%

“…14 unrelated, non-consanguineous Japanese families with ARWH were seen in our hospital or referred to us in the previous 2 years. 5 patients (Patients 1, 4, 5, 6 and 11) were previously presented [9]. Clinical information of the patients is summarized in Table 1.…”

Section: Methodsmentioning

confidence: 99%

“…2 patterns of LIPH mutation–homozygous c.736T>A, and compound heterozygous c.736T>A and c.742C>A–are particularly frequent [5]–[9]. The LIPH mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) were proven to be dysfunctional by in vitro studies [6].…”

Section: Introductionmentioning

confidence: 99%

“…We recently reported 5 cases of ARWH and presented on 1 patient with mild hypotrichosis with the homozygous mutation c.736T>A [9]. To more accurately confirm the allele frequencies of the 2 founder mutations in Japan and to reveal genotype/phenotype correlations of ARWH, we have analyzed the clinical features, molecular basis and complete haplotype of 14 Japanese ARWH patients and analyzed the founder mutations with 819 Japanese control individuals.…”

Section: Introductionmentioning

confidence: 99%

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Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

et al. 2014

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Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair, and 1 patient had complete baldness since birth. An LIPH mutation search revealed homozygous c.736T>A mutations in 10 of the patients. Compound heterozygous c.736T>A and c.742C>A mutations were found in 3 of the patients, and homozygous c.742C>A mutation in 1 patient. The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736T>A mutation. The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. Haplotype analysis revealed that the alleles containing the LIPH c.736T>A mutation had a haplotype identical to that reported previously, although 4 alleles out of 5 chromosomes containing the LIPH c.742C>A mutation had a different haplotype from the previously reported founder allele. These alleles with c.742C>A are thought to be the third founder LIPH mutation causing ARWH. To accurately determine the prevalence of the founder mutations, we investigated allele frequencies of those mutations in 819 Japanese controls. Heterozygous c.736T>A mutations were found in 13 controls (allele frequency: 0.0079; carrier rate: 0.016), and heterozygous c.742C>A mutations were found in 2 controls (allele frequency: 0.0012; carrier rate: 0.0024). In conclusion, this study confirms the more accurate allele frequencies of the pathogenic founder mutations of LIPH and shows that there is a third founder mutation in Japan. In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH.

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Section: Discussionmentioning

confidence: 91%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

et al. 2014

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“…The clinical characteristics of the patients are summarized in Table . Following approval by the medical ethics committee of Nagoya University Graduate School of Medicine, and after obtaining informed consent from the patients, screening for LIPH mutations in genomic DNA was performed, as previously described, with all studies conducted according to the principles of the Declaration of Helsinki.…”

Section: Summary Of the Patients With Autosomal Recessive Woolly Hairmentioning

confidence: 99%

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

et al. 2017

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Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

et al. 2020

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LIPH pathogenic variants are a major cause of autosomal recessive woolly hair/hypotrichosis (ARWH; OMIM 278150/ 604379). To our knowledge, there have been no effective treatments for ARWH, although some reports have found topical minoxidil to improve hypotrichosis. 1 We report the results of a prospective nonrandomized clinical trial involving 8 Japanese patients with ARWH carrying LIPH pathogenic variants.Methods | This 1-year, single-center, 2-armed, open-label, prospective interventional study enrolled patients from the dermatology outpatient clinic of Nagoya University Hospital in Aichi, Japan (see the trial protocol in the Supplement). Eight patients in the intervention arm have LIPH pathogenic variants. One patient in the other arm has non-LIPH variations causing hypotrichosis. Written informed consent was obtained from all participants prior to participation, and this study was approved by the

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Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood

Abstract: Some patients with homozygous c.736T>A can have a mild hypotrichosis phenotype with long hairs in adulthood.

Cited by 14 publications

References 10 publications

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

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