Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

E Flex; A Ciolfi; V Caputo; V Fodale; Chiara Leoni; D Melis; Mf Bedeschi; L Mazzanti; A Pizzuti; M Tartaglia; Giuseppe Zampino

doi:10.1136/jmedgenet-2012-101405

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

E Flex, A Ciolfi, V Caputo, V Fodale, Chiara Leoni, D Melis, Mf Bedeschi, L Mazzanti, A Pizzuti, M Tartaglia^*, Giuseppe Zampino

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

32 Citazioni (Scopus)

Abstract

Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

Lingua originale	Inglese
pagine (da-a)	493-499
Numero di pagine	7
Rivista	EJMG
Volume	50
Numero di pubblicazione	8
DOI	https://doi.org/10.1136/jmedgenet-2012-101405
Stato di pubblicazione	Pubblicato - 2013

All Science Journal Classification (ASJC) codes

Genetica
Genetica (clinica)

Keywords

Base Sequence
Child
Clinical genetics
Congenital
Developmental
Diagnosis
Exome
Eye Abnormalities
Facies
Female
Genome-wide
Homozygote
Humans
Intellectual Disability
Limb Deformities
Male
Microcephaly
Molecular Sequence Data
Molecular genetics
Mutation
Pedigree
Ubiquitin-Protein Ligases

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10.1136/jmedgenet-2012-101405

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abstract = "Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.",

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AU - Flex, E

AU - Ciolfi, A

AU - Caputo, V

AU - Fodale, V

AU - Leoni, Chiara

AU - Melis, D

AU - Bedeschi, Mf

AU - Mazzanti, L

AU - Pizzuti, A

AU - Tartaglia, M

AU - Zampino, Giuseppe

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N2 - Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

AB - Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

KW - Base Sequence

KW - Child

KW - Clinical genetics

KW - Congenital

KW - Developmental

KW - Diagnosis

KW - Exome

KW - Eye Abnormalities

KW - Facies

KW - Female

KW - Genome-wide

KW - Homozygote

KW - Humans

KW - Intellectual Disability

KW - Limb Deformities

KW - Male

KW - Microcephaly

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KW - Pedigree

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KW - Clinical genetics

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KW - Developmental

KW - Diagnosis

KW - Exome

KW - Eye Abnormalities

KW - Facies

KW - Female

KW - Genome-wide

KW - Homozygote

KW - Humans

KW - Intellectual Disability

KW - Limb Deformities

KW - Male

KW - Microcephaly

KW - Molecular Sequence Data

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KW - Mutation

KW - Pedigree

KW - Ubiquitin-Protein Ligases

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ER -

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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