Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Maria Rita Passos-Bueno, Emilio Donti

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Craniotubular dysplasias (CTD) are a heterogeneous group of genetic disorders of skeletal development, whose clinical and etiological classification is still much debated. One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. In the literature a few families are reported with CMD phenotype that suggest an autosomal recessive (AR) pattern of inheritance. A candidate locus at 6q21-22 has been mapped in a large inbred Brazilian family, but the gene of the recessive form is still unknown. Our data on a female patient with CMD phenotype, born from healthy first degree cousins and displaying homozygosity for polymorphic markers at the 6q21-22 locus, further support the existence of an AR CMD, expanding its clinical spectrum to a more severe phenotype.

Original languageEnglish
Pages (from-to)1106-1108
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number5
DOIs
Publication statusPublished - May 2011

Fingerprint

Phenotype
Recessive Genes
Inheritance Patterns
Inborn Genetic Diseases
Mutation
Genes
Schwartz-Lelek syndrome
Autosomal Dominant Craniometaphyseal Dysplasia
Autosomal recessive type Craniometaphyseal dysplasia

Keywords

  • 6q21-22
  • Autosomal recessive
  • Craniometaphyseal dysplasia
  • Craniotubular dysplasias
  • Phenotypic variability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. / Prontera, Paolo; Rogaia, Daniela; Sobacchi, Cristina; Tavares, Vanessa Luiza Romanelli; Mazzotta, Giovanni; Passos-Bueno, Maria Rita; Donti, Emilio.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 5, 05.2011, p. 1106-1108.

Research output: Contribution to journalArticle

Prontera, Paolo ; Rogaia, Daniela ; Sobacchi, Cristina ; Tavares, Vanessa Luiza Romanelli ; Mazzotta, Giovanni ; Passos-Bueno, Maria Rita ; Donti, Emilio. / Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 5. pp. 1106-1108.
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