Table 1 Investigated families and patients with symptomatic or suspected PHP Ia.

From: Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS

 

Patient

Diagnosis

Mutation in GNAS locus

Platelet count L-1

Family I

P1

PHP type Ia

c.1A > G (p.Met1Val)

226 × 109

Family II

P2 (mother P3,4)

PHP type Ia

c.338G > C (p.Lys338Asn)

215 × 109

P3

PHP type Ia

c.338G > C (p.Lys338Asn)

173 × 109

P4

PHP type Ia

c.338G > C (p.Lys338Asn)

244 × 109

Family III

P5 (mother P6)

(asymptomatic)

not found

255 × 109

P6

PHP type Ia

not found

214 × 109

Family IVa

P7

PHP suspected

c.565_568del

278 × 109

  1. Listed are patients with (suspected) PHP Ia (OMIM: 103,580), confirmed mutations and whole blood platelet counts. Limited blood was obtained from P7 (young child).
  2. aParents did not allow further examination.
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