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Article

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Molecular vision - 1 Jan 2012

Mateo Robertino Karlo, Johnson Royce, Lehmann Ordan J

Abstract excerpt

PURPOSE: Manitoba Oculotrichoanal (MOTA) syndrome is an autosomal recessive disorder present in First Nations families that is characterized by ocular (cryptophthalmos), facial, and genital anomalies. At the commencement of this study, its genetic basis was undefined. METHODS: Homozygosity analysis was employed to map the causative locus using DNA samples from four probands of Cree ancestry. After single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22690109
PMCID: PMC3369896

Genes

FREM1
FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.PMID 22690109Read ↗

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.Semantic proximity Read ↗

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Semantic proximity Read ↗

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.Semantic proximity Read ↗

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.Semantic proximity Read ↗

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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.Semantic proximity Read ↗

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.Semantic proximity Read ↗

Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.Semantic proximity Read ↗

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.Semantic proximity Read ↗

Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.Semantic proximity Read ↗

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Semantic proximity Read ↗

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Semantic proximity Read ↗

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