Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Aten, Emmelien; Brasz, L.; Bornholdt, Dorothea; Hooijkaas, Ingeborg B.; Porteous, Mary; Sybert, Virginia P.; Vermeer, Maarten H.; Vossen, Rolf H. A. M.; Wielen, M.J.R. van der; Bakker, Egbert; Breuning, Martijn H.; Grzeschik, K.-H.; Oosterwijk, Jan C.; Dunnen, Johan T. den

doi:10.1002/humu.21335

Cited by 69 publications

(74 citation statements)

References 29 publications

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“…In vitro functional investigations with MBTPS2 skin disease mutants revealed decreased sterol responsiveness and were predicted to deplete protease activity Immunohistochemical staining indicated that MBTPS2 is mainly expressed in the upper granular layer in normal skin, as previously shown (Aten et al, 2010); however, in OS skin, MBTPS2 was expressed throughout the epidermis (Figure 2c). There was no apparent difference in MBTPS2 localization in the skin of a KFSD patient with the p.N508S mutation (Aten et al, 2010). It is unclear why this is but it may be because of differences in processing of the mutants in the two diseases.…”

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confidence: 54%

“…(Oeffner et al, 2009;Aten et al, 2010), with the mutants p.R429H and p.F475S having the most profound effect(Oeff- ner et al, 2009). p.R429H and p.F475S are also associated with the most severe disease phenotypes, and it is hypothesized that this is because of their close proximity to the LDG motif(Oeffner et al, 2009;Naiki et al, 2012).…”

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confidence: 95%

“…MBTPS2 mutations have been linked to three skin diseases: ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome (Oeffner et al, 2009;Ding et al, 2010;Tang et al, 2011), keratosis follicularis spinulosa decalvans (KFSD) (Aten et al, 2010), and BRESEK/BRESHECK syndrome (Naiki et al, 2012), suggesting the specific position of a disease-associated mutation in MBTPS2 affects the clinical presentation. In line with the X-linked inheritance, only male patients presented with full clinical disease features, whereas female carriers of MBTPS2 mutations were either phenotypically normal or showed rather mild and asymmetric symptoms.…”

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confidence: 97%

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A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

Haghighi

Scott

Poon

et al. 2013

Journal of Investigative Dermatology

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Prigogine I, Lefever R, Goldbeter A et al. (1969) Symmetry breaking instabilities in biological systems. Nature 223:913-6 Savill NJ, Sherratt JA (2003) Control of epidermal stem cell clusters by Notch-mediated lateral induction. Dev Biol 258:141-53 Serra R, Villani M, Graudenzi A et al. (2007) Why a simple model of genetic regulatory networks describes the distribution of avalanches in gene expression data. J Theor Biol 246:449-60 Turing AM (1952) The chemical basis of morphogenesis. Phil Trans Roy Soc B Biol Sci 237:37-72 Varela FG, Maturana HR, Uribe R (1974) Autopoiesis: the organization of living systems, its characterization and a model.

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confidence: 54%

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confidence: 95%

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confidence: 97%

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A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

Haghighi

Scott

Poon

et al. 2013

Journal of Investigative Dermatology

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“…The second pathology linked to mutations in MBTPS2 is the IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome (Oeffner et al 2009;Ding et al 2010;Tang et al 2011). Finally, MBTPS2 has also been linked to keratosis follicularis spinulosa decalvans (KFSD) disease (Aten et al 2010).…”

Section: Defects In Genes Involved In Proteolytic Cleavagementioning

confidence: 98%

Golgi post‐translational modifications and associated diseases

Potelle

Klein

Foulquier

2015

J of Inher Metab Disea

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For non specialists, Golgi is a very well known subcellular compartment involved in secretion and correct targeting of soluble and transmembrane proteins. Nevertheless, Golgi is also specifically involved in many different and diverse post-translational modifications. Through its diverse functions, Golgi is not only able to modify secreted and transmembrane proteins but also cytoplasmic proteins. The Golgi apparatus research field is so broad that an exhaustive review of this organelle is not doable here. The goal of this review is to cover the main post-translational modifications occurring at the Golgi level and present the identified associated diseases.

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“…Most aff ected families with KFSD show X-linked inheritance: it was found that the gene responsible for KFSD is located on chromosome Xp22.13 -p22.2, mapped between AFM291wf5 and AFM316yf5 (2). Aten and associates investigated patients with KFSD and confi rmed mutation in the MBTPS2 gene; it has been established that this mutation decreases the activity of the enzyme involved in the metabolism of cholesterol and the barrier function of the epidermis (16).…”

Section: S Stojanović Et Al Ulerythema Ophryogenes and Keratosis Fomentioning

confidence: 99%

Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report

Stojanović

Vuckovic

Jovanović

2015

Serbian Journal of Dermatology and Venereology

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Ulerythema ophryogenes and keratosis follicularis spinulosa decalvans are rare folliculocentric keratotic disorders, from the group of follicular genokeratoses, characterized by keratosis pilaris atrophicans: follicular keratotic papules, sometimes with surrounding erythema, which eventually result in fi brosis, atrophy, progressive scarring and permanent hair loss. Ulerythema ophryogenes begins at birth or soon thereafter; it involves the lateral eyebrows, spreads medially and eventually affects the entire eyebrows, cheeks, and less frequently, forehead and asjecebt scalp. Involvement of the scalp has apparently not been reported in cases in which the eyebrows were predominantly involved. In addition to sporadic cases, ulerythema ophryogenes has been reported among relatives. Keratosis follicularis spinulosa decalvans is also a genetically heterogeneous syndrome which begins in infancy or childhood by involving hair bearing skin, especially the scalp; rarely it is confi ned to the face involving only eyebrows and eyelashes, but affects predominantly the scalp, leading to severe progressive cicatricial alopecia. Both conditions tend to progress until puberty. The authors present a case of an otherwise healthy 19-year-old male patient, with absence of lateral eyebrows since childhood, which spread symmetrically and medially, until puberty affecting the entire eyebrows, whereas the eyelashes were completely spared. On examination, skin fi ndings on the face, trunk and extremities pointed to ulerythema ophryogenes: apart from hair loss, the lateral eyebrows were highly erythematous; a great number of disseminated follicular, slightly keratotic papules (keratosis pilaris) pin-or match-head sized, were seen on the trunk, extensor surface of the arms and legs, as well as the buttock, and on palpation the skin felt like a "nutmeg grater". However, follicle-based erythematous papules (focal patchy alopecia) were found not only along the eyebrows but also partly in the parietal capillitium forming focal patchy alopecia, which is a fi nding characteristic for keratosis follicularis spinulosa decalvans; the histopathological analysis of the biopsy specimens taken from the parietal capillitium has confi rmed the clinical diagnosis. Cytogenetic analysis showed no karyotypic abnormalities. Family history showed that the patient's mother and maternal grandfather also suffered from hair loss especially of the lateral eyebrows. This paper presents an overlap between two rare follicular genokeratoses in a young male with a positive family history, who presented with ulerythema ophryogenes involving not only the eyebrows, but also the scalp, in the form of parietal, focal cicatricial patchy alopecia.

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Cited by 69 publications

References 29 publications

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome

Golgi post‐translational modifications and associated diseases

Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report

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