Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
2015
Context:
Pituitary stalkinterruption syndrome (PSIS) is a rare, congenital anomaly of the
pituitary glandcharacterized by
pituitary glandinsufficiency, thin or discontinuous
pituitary stalk,
anterior pituitaryhypoplasia, and ectopic positioning of the
posterior pituitarygland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. Objective: We applied whole-
exome sequencing(WES) to a
consanguineousfamily with two affected siblings who have
pituitary glandinsufficiency and radiographic findings of hypoplastic (thin)
pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary
stalk—characteristic clinical diagnostic findings of PSIS. Design a...
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