Microdeletions in chromosome 17q22, where the NOG gene resides, have been reported leading to the NOG-related symphalangism spectrum disorder (NOG-SSD), intellectual disability and other developmental abnormalities. In this study we reported a dominant Chinese Han family segregating with typical NOG-SSD symptoms including proximal symphalangism, conductive hearing loss, amblyopia and strabismus...

Hugo: TRIM37 Other names: MUL; KIAA0898; POB1; TEF3 Location: 17q23.2 Local order: Genes flanking TRIM37 oriented from centromere to telomere on 17q23 are: RAD51C, 17q22-q23, D51 homolog C (S. Cerevisiae) PPM1E, 17q23.2, protein phosphatase 1E (PP2C domain containing) TRIM37, 17q22-q23, tripartite motif-containing 37 FAM33A 17q23.2, family with sequence similarity 33, member A PRR11(FLJ11029) 1...

Germ-line protein kinase A (PKA) regulatory-subunit type-Ialpha (RIalpha; PRKAR1A)-inactivating mutations and loss-of-heterozygosity (LOH) of its 17q22-24 locus have been found in Cushing syndrome (CS) caused by primary pigmented nodular adrenocortical disease (PPNAD). We examined whether somatic 17q22-24, PRKAR1A, or PKA changes are present in 44 sporadic adrenocortical tumors (29 adenomas and...

The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues an...

BACKGROUND Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is the most common orofacial birth defect with an aetiology involving both genetic and environmental factors. Genome-wide association studies (GWAS) have identified several genomic susceptibility regions for nsCL/P. In the present study, the three well established single nucleotide polymorphisms (SNPs) identified by GWAS (r...

The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22–24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues an...

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic con...

PURPOSE AND METHODS High-level DNA amplifications are recurrently found in breast cancer, and some of them are associated with poor patient prognosis. To determine their frequency and co-occurrence in familial breast cancer, we have analyzed 80 tumors previously characterized for BRCA1 and BRCA2 germ-line mutations (26 BRCA1, 18 BRCA2, and 36 non-BRCA1/2) using high-resolution comparative genom...

Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in r...