title: Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
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.
authors.affiliation: Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Daniela
authors.initials: D
authors.lastname: Rogaia
authors.forename: Cristina
authors.initials: C
authors.lastname: Sobacchi
authors.forename: Vanessa Luiza Romanelli
authors.initials: VL
authors.lastname: Tavares
authors.forename: Giovanni
authors.initials: G
authors.lastname: Mazzotta
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Emilio
authors.initials: E
authors.lastname: Donti
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D017271:Craniomandibular Disorders; D005158:Facial Paralysis / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D010024:Osteoporosis / Q000235:genetics; D012886:Skull / Q000002:abnormalities