Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

American journal of medical genetics. Part A - 1 Jan 2012

Naiki Misako, Mizuno Seiji, Yamada Kenichiro, Yamada Yasukazu, Kimura Reiko, Oshiro Makoto, Okamoto Nobuhiko, Makita Yoshio, Seishima Mariko, Wakamatsu Nobuaki

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Growth Disorders
Share to Hirschsprung Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metalloendopeptidases

Share to Congenital Abnormalities

Share to DNA Fragmentation

Share to Ectodermal Dysplasia

Share to Genetic Diseases, X-Linked

Source

Identifiers

PMID: 22105905
DOI: 10.1002/ajmg.a.34373

Genes

MBTPS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.PMID 22105905Read ↗

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.Semantic proximity Read ↗

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.Semantic proximity Read ↗

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.Semantic proximity Read ↗

A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype.Semantic proximity Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.Semantic proximity Read ↗

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.Semantic proximity Read ↗

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.Semantic proximity Read ↗

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.Semantic proximity Read ↗

Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations.Semantic proximity Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.Semantic proximity Read ↗

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.Semantic proximity Read ↗

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.