title: A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
abstract: Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Mutations in the CLCN7 gene are responsible not only for a substantial portion of ARO patients but also for other forms of osteopetrosis characterized by different severity and inheritance. The lack of a clear genotype/phenotype correlation makes genetic counseling a tricky issue for CLCN7-dependent osteopetrosis. Here, we characterize the first homozygous interstitial deletion in 16p13.3, detected by array comparative genomic hybridization in an ARO patient of Jordanian origin. The deletion involved other genes besides CLCN7, while the proband displayed a classic ARO phenotype; however, her early death did not allow more extensive clinical investigations. The identification of this novel genomic deletion involving a large part of the CLCN7 gene is of clinical relevance, especially in prenatal diagnosis, and suggests the possibility that this kind of mutation has been underestimated so far. These data highlight the need for alternative approaches to genetic analysis also in other ARO-causative genes.
authors: UOS/IRGB, Milan Unit, CNR, Milan, Italy.
authors: Alessandra
authors: A
authors: Pangrazio
authors: Annalisa
authors: A
authors: Frattini
authors: Roberto
authors: R
authors: Valli
authors: Emanuela
authors: E
authors: Maserati
authors: Lucia
authors: L
authors: Susani
authors: Paolo
authors: P
authors: Vezzoni
authors: Anna
authors: A
authors: Villa
authors: Waleed
authors: W
authors: Al-Herz
authors: Cristina
authors: C
authors: Sobacchi
mesh_terms: D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017353:Gene Deletion; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D010022:Osteopetrosis / Q000235:genetics*; D010641:Phenotype
chemical_list: C097540:CLCN7 protein, human; D018118:Chloride Channels