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Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42. | LitMetric

AI Article Synopsis

  • Biallelic and pathogenic variants in the RTTN gene are linked to varying neurodevelopmental issues, microcephaly, and other physical abnormalities, with previous cases not surpassing their 20s.
  • This study presents a unique consanguineous family with three adult members aged 43, 57, and 60 who exhibit primary microcephaly, developmental delays, primordial dwarfism, and brachydactyly due to a specific gene variant.
  • MRI imaging showed significant brain structural changes, and findings suggest that the shortened form of the Rotatin protein may allow for stable clinical features into late adulthood, expanding the recognized symptoms associated with RTTN mutations.

Article Abstract

Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reached their third decade. Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. Brain MRI of one affected individual showed markedly reduced volume of cerebral lobes and enlarged sulci but without signs of neural migration defects. Our assessment of three adult cases with a biallelic RTTN variant shows that a predicted shortened Rotatin, lacking the C-terminal end, are associated with stationary clinical features into the seventh decade. Furthermore, our report adds brachydactyly to the phenotypic spectrum in this pleiotropic entity.

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Source
http://dx.doi.org/10.1002/humu.23755DOI Listing

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