Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia

Clinical Genetics

Volumn 81, Issue 1, 2012, Pages 93-95

  Dutra, E H ^a   Chen, I P ^a   McGregor, T L ^b   Ranells, J D ^c   Reichenberger, E J ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^c UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN ANKH; UNCLASSIFIED DRUG;

BONE DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; CRANIOMETAPHYSEAL DYSPLASIA; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; LETTER; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BASE SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; HYPEROSTOSIS; HYPERTELORISM; INFANT; PHOSPHATE TRANSPORT PROTEINS; SEQUENCE DELETION;

EID: 83355167155     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01700.x     Document Type: Letter

References (7)

1. Reichenberger E, Tiziani V, Watanabe S et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001: 68: 1321-1326.
2. Nurnberg P, Thiele H, Chandler D et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001: 28: 37-41.
3. Zajac A, Baek SH, Salhab I et al. Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. Am J Med Genet A 2010: 152A: 770-776.
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6. Williams CJ, Zhang Y, Timms A et al. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 2002: 71: 985-991.
7. Morava E, Kuhnisch J, Drijvers JM et al. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 2011: 96: E189-198.