Mbtps2 Mutation Causes Bresek/Bresheck Syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 97-102

  Naiki, Misako ^a,b   Mizuno, Seiji ^a   Yamada, Kenichiro ^a   Yamada, Yasukazu ^a   Kimura, Reiko ^a   Oshiro, Makoto ^c   Okamoto, Nobuhiko ^d   Makita, Yoshio ^e   Seishima, Mariko ^f   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e ASAHIKAWA MEDICAL COLLEGE   (Japan)

^f GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

BRESEK BRESHECK syndrome; IFAP syndrome; MBTPS2; Mutation; S2P

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; ATRICHIA; BRAIN MALFORMATION; BRESEK SYNDROME; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL MALFORMATION; CRYPTORCHISM; DISEASE ASSOCIATION; EAR MALFORMATION; ECTODERMAL DYSPLASIA; GENE; GROWTH RETARDATION; HIRSCHSPRUNG DISEASE; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY MALFORMATION; MALE; MBTPS2 GENE; MISSENSE MUTATION; PHOTOPHOBIA; PRIORITY JOURNAL; VERTEBRA MALFORMATION; X LINKED SYNDROME OF ICHTHYOSIS FOLLICULARIS;

BRAIN; CONGENITAL ABNORMALITIES; DNA FRAGMENTATION; DNA MUTATIONAL ANALYSIS; EAR; ECTODERMAL DYSPLASIA; GENETIC DISEASES, X-LINKED; GENOME-WIDE ASSOCIATION STUDY; GROWTH DISORDERS; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KIDNEY; MALE; METALLOENDOPEPTIDASES; MOLECULAR BIOLOGY; MUTATION; PEDIGREE;

EID: 84355161989     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34373     Document Type: Article

References (15)

1. Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. 2010. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 31: 1125-1133.
2. Asada R, Kanemoto S, Kondo S, Saito A, Imaizumi K. 2011. The signalling from endoplasmic reticulum-resident bZIP transcription factors involved in diverse cellular physiology. J Biochem 149: 507-518.
3. Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Pfeiffer RA, Naumann GOH. 1999. Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. Arch Ophthalmol 117: 681-684.
4. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. 2008. Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism. J Lipid Res 49: 697-714.
5. Kondo S, Murakami T, Tatsumi K, Ogata M, Kanemoto S, Otori K, Iseki K, Wanaka A, Imaizumi K. 2005. OASIS, a CREB/ATF-family member, modulates UPR signalling in astrocytes. Nat Cell Biol 7: 186-194.
6. MacLeod JMH. 1909. Three cases of 'ichthyosis follicularis' associated with baldness. Br J Dermatol 21: 165-189.
7. Martino F, D'Eufemia P, Pergola MS, Finocchiaro R, Celli M, Giampà G, Frontali M, Giardini O. 1992. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis alopecia photophobia (IFAP) syndrome. Am J Med Genet 44: 233-236.
8. Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH. 2009. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 84: 459-467.
9. Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. 1997. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): New X-linked syndrome? Am J Med Genet 68: 386-390.
10. Sakai J, Duncan EA, Rawson RB, Hua X, Brown MS, Goldstein JL. 1996. Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment. Cell 85: 1037-1046.
11. Sato-Matsumura KC, Matsumura T, Kumakiri M, Hosokawa K, Nakamura H, Kobayashi H, Ohkawara A. 2000. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter. Br J Dermatol 142: 157-162.
12. Traboulsi E, Waked N, Mégarbané H, Mégarbané A. 2004. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthal Genet 25: 153-156.
13. Tumialán LM, Mapstone TB. 2006. A rare cause of benign ventriculomegaly with associated syringomyelia: BRESEK/BRESHECK syndrome. Case illustration. J Neurosurg 105: 155.
14. Ye J, Rawson RB, Komuro R, Chen X, Davé UP, Prywes R, Brown MS, Goldstein JL. 2000. ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell 6: 1355-1364.
15. Zelenski NG, Rawson RB, Brown MS, Goldstein JL. 1999. Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins. J Biol Chem 274: 21973-21980.