title: [A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].
abstract: OBJECTIVE
  To clarify the clinical features and genetic background of a kindred of primary pigmented nodular adrenocortical disease (PPNAD).
  
  
  METHODS
  Detailed clinical characteristics and laboratory test results from a ten-year old girl diagnosed as PPNAD were collected. Seven members of her family were screened for Cushing syndrome and Carney complex, and their blood DNA was extracted and sequenced for PRKAR1A, PDE11A, PDE8B and CTNNB1 mutations with ABI3730.
  
  
  RESULTS
  The girl presented with symptoms and signs of hypercortisolism, while no features of Carney complex were observed. Hypercortisolemia, suppressed corticotrophin and high urinary free cortisol level were revealed. Cortisol level could not be suppressed both in high and low dose dexamethasone suppression test. The diagnosis of adrenocorticotrophic hormone (ACTH)-independent Cushing syndrome was established. Image and pathology of adrenal glands were in accordance with PPNAD. Other family members showed no evidence of Cushing syndrome or Carney complex. DNA sequencing showed that the patient harbored a missense mutation, C18G. Her father and younger sister were proved to be carriers of this mutation.
  
  
  CONCLUSIONS
  A Chinese PPNAD family was identified clinically and genetically, and a novel missense mutation of PRKAR1A was found.
authors.forename: Hui
authors.initials: H
authors.lastname: Ran
authors.forename: Xiaokun
authors.initials: X
authors.lastname: Ma
authors.forename: Qingzhu
authors.initials: Q
authors.lastname: Wang
authors.forename: Ziyi
authors.initials: Z
authors.lastname: Xie
authors.forename: Yanxia
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Endocrinology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Email: hyqingj@zzu.edu.cn.
authors.forename: Guijun
authors.initials: G
authors.lastname: Qin
mesh_terms: D000303:Adrenal Cortex Diseases / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D002648:Child; D003480:Cushing Syndrome / Q000175:diagnosis; D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D054756:Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; C517834:PRKAR1A protein, human; D000324:Adrenocorticotropic Hormone