title: Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.
abstract: Pseudohypoparathyroidism (PHP) comprises a heterogeneous group of endocrine disorders with the common feature of resistance to parathormone (PTH), manifested by hypocalcemia, hyperphosphatemia, and elevation of serum PTH despite normal renal function. Herein, the first Korean cases of PHP type Ia are reported. The two patients (6-yr-old female, 7-yr-old male) had typical signs of Albright hereditary osteodystrophy. Genomic DNA was isolated from their peripheral blood leukocytes and the GNAS gene was amplified by PCR and analysed by bidirectional sequencing including all coding exons. Two GNAS mutations were found: c.94A>T and c.344_345insT. Patient 1 had a nonsense mutation of c.94A>T (p. K32X), which has not been previously described; the mother also had c.94A>T, and it therefore was a familial mutation. Patient 2 had a known frame shift mutation for c.344_345insT (p.V117RfsX23). The family members of patient 2 had wild-type sequences. In summary, two Korean patients with PHP-Ia were confirmed by genetic analysis and a novel p.K32X product of the GNAS mutation was identified.
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, 135-710, Korea.
authors.forename: Chang-Hun
authors.initials: CH
authors.lastname: Park
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D019943:Amino Acid Substitution; D015992:Body Mass Index; D002648:Child; D002864:Chromogranins; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D011547:Pseudohypoparathyroidism / Q000175:diagnosis / Q000235:genetics*
chemical_list: D002864:Chromogranins; D017931:DNA Primers; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs