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Article

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

American journal of medical genetics. Part A - 1 Apr 2010

Kornak Uwe, Brancati Francesco, Le Merrer Martine, Lichtenbelt Klaske, Höhne Wolfgang, Tinschert Sigrid, Garaci Francesco Giuseppe, Dallapiccola Bruno, Nürnberg Peter

Abstract excerpt

Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset...

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Identifiers

PMID: 20358596
DOI: 10.1002/ajmg.a.33301

Genes

ANKH

Variants

Provenance

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Related research

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Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.PMID 20358596Read ↗

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.Semantic proximity Read ↗

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.Semantic proximity Read ↗

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.Semantic proximity Read ↗

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.Semantic proximity Read ↗

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.Semantic proximity Read ↗

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).Semantic proximity Read ↗

Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.Semantic proximity Read ↗

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal DysplasiaSemantic proximity Read ↗

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.Semantic proximity Read ↗

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