A <i>Novel RNPC3</i> Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy
Authors' conclusion
Expanding our knowledge of the spectrum of RNPC3 variants, and apprehending clinical and molecular data of additional cases, is decisive for accurate diagnosis and genetic counseling.
Study context
- Population
- 2 siblings with congenital hypopituitarism (CH) and neuropathy
- Participants
- 2 siblings
- Outcome
- Clinical and molecular characteristics
Methodological detailsexome sequencing, Sanger sequencing segregation, three-dimensional protein modelling
- Exome sequencing
- Sanger sequencing segregation
- Three-dimensional protein modelling
Main finding
As reported in the abstract
- Proband: 16-month-old girl referred for failure to thrive; height 55.8 cm (−7.6 SDS), weight 6.5 kg (−3.6 SDS), head circumference 41.8 cm (−3.82)
- Proband: developmental delay and intellectual disability
- Proband: central hypothyroidism, GH and PRL deficiencies; MRI pituitary hypoplasia
- Proband: peripheral neuropathy on electroneuromyography
- Homozygous novel RNPC3 variant c.484C>T/p.(Pro162Ser) on exome sequencing
- Brother: same genotype, pituitary hormone deficiencies with polyneuropathy
Original publication
A <i>Novel RNPC3</i> Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy. Horm Res Paediatr. Published 18 July 2023. doi:10.
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