title: MBTPS2 mutation causes BRESEK/BRESHECK syndrome.
abstract: BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism. This syndrome has only been reported in three male patients. Here, we report on the fourth male patient presenting with brain anomaly, intellectual disability, growth retardation, ectodermal dysplasia, vertebral (skeletal) anomaly, Hirschsprung disease, low-set and large ears, cryptorchidism, and small kidneys. These manifestations fulfill the clinical diagnostic criteria of BRESHECK syndrome. Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as intellectual disability, vertebral and renal anomalies, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation. This mutation has been reported to cause the most severe type of ichthyosis follicularis with atrichia and photophobia syndrome, including neonatal and infantile death. These results demonstrate that the p.Arg429His mutation in MBTPS2 causes BRESEK/BRESHECK syndrome.
authors: Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
authors: Misako
authors: M
authors: Naiki
authors: Seiji
authors: S
authors: Mizuno
authors: Kenichiro
authors: K
authors: Yamada
authors: Yasukazu
authors: Y
authors: Yamada
authors: Reiko
authors: R
authors: Kimura
authors: Makoto
authors: M
authors: Oshiro
authors: Nobuhiko
authors: N
authors: Okamoto
authors: Yoshio
authors: Y
authors: Makita
authors: Mariko
authors: M
authors: Seishima
authors: Nobuaki
authors: N
authors: Wakamatsu
mesh_terms: D001921:Brain / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D053938:DNA Fragmentation; D004252:DNA Mutational Analysis; D004423:Ear / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D055106:Genome-Wide Association Study; D006130:Growth Disorders / Q000235:genetics; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008967:Molecular Biology; D009154:Mutation; D010375:Pedigree
chemical_list: D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human