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Article

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

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

Zajac Allison, Baek Seung-Hak, Salhab Imad, Radecki Melissa A, Kim Sukwha, Hakonarson Hakon, Nah Hyun-Duck

Abstract excerpt

Craniometaphyseal dysplasia is caused by mutations in ANKH (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified and ANKH was sequenced. The affected patient had a complex heterozygous mutation in exon 7 (c.936T > C, c.938C > G,...

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Identifiers

PMID: 20186813
DOI: 10.1002/ajmg.a.33317
PMCID: PMC2944898

Genes

ANKH

Variants

Provenance

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Related research

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Research trail→

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Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.PMID 20186813Read ↗

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

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

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.Semantic proximity Read ↗

Investigation of the role of ANKH in ankylosing spondylitis.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 ↗

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

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

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.Semantic proximity Read ↗

Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.Semantic proximity Read ↗

[Research Advances of Human Homologue of Mouse Progressive Ankylosis Protein and Bone and Joint Diseases].Semantic proximity Read ↗

Bone Mineralization Regulation: Using Zebrafish as a Model to Study ANKH-associated Mineralization DisordersSemantic proximity Read ↗

Biochemical and genetic analysis of ANK in arthritis and bone disease.Semantic proximity Read ↗

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