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

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 870-874

  Kornak, Uwe ^a,b   Brancati, Francesco ^c   Le Merrer, Martine ^d   Lichtenbelt, Klaske ^e   Höhne, Wolfgang ^a   Tinschert, Sigrid ^f   Garaci, Francesco Giuseppe ^g,h   Dallapiccola, Bruno ^c   Nürnberg, Peter ^i,j  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^g IRCCS SAN RAFFAELE PISANA   (Italy)

^h UNIVERSITY OF ROME TOR VERGATA   (Italy)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY OF COLOGNE   (Germany)

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Author keywords

ANKH; Clinical variability; Craniometaphyseal dysplasia; Novel mutations

Indexed keywords

CELL MEMBRANE PROTEIN;

ADULT; ANKH GENE; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CRANIOMETAPHYSEAL DYSPLASIA; GENE; GENE MUTATION; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SKULL RADIOGRAPHY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; FEMALE; HEARING LOSS, CONDUCTIVE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHATE TRANSPORT PROTEINS; PREGNANCY; SCLEROSIS; SKULL; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 77950399249     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33301     Document Type: Article

References (9)

1. Beighton P, Hamersma H, Horan F. 1979. Craniometaphyseal dysplasia - Variability of expression within a large family. Clin Genet 15:252-258.
2. Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ. 2009. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res 24:1206-1215.
3. Gorlin RJ, Spranger J, Koszalka MF. 1969. Genetic craniotubular bone dysplasias and hyperostoses: Critical analysis. Birth Defects Orig Art Ser 5:79-95.
4. Gurley KA, Reimer RJ, Kingsley DM. 2006. Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet 79:1017-1029.
5. Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. 2000. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q 21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet 95:482-491.
6. Nürnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. 2001. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28:37-41. (Pubitemid 32405813)
7. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. 2001. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68:1321-1326.
8. Taylor DB, Sprague P. 1989. Dominant craniometaphyseal dysplasia - A family study over five generations. Australas Radiol 33:84-89.
9. Tinschert S, Braun HS. 1998. Craniometaphyseal dysplasia in six generations of a German kindred. Am J Med Genet 77:175-181. (Pubitemid 28208437)