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Case Reports
. 2023 Oct;104(4):499-501.
doi: 10.1111/cge.14390. Epub 2023 Jun 13.

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment

Khurram Liaqat  1 , Thashi Bharadwaj  1 , Khadim Shah  2 , Abdul Nasir  3 , Anushree Acharya  1 , Saadullah Khan  4 , Irfan Ullah  5 , Isabelle Schrauwen  1 , Wasim Ahmad  6 , Suzanne M Leal  1   7
Affiliations
Case Reports

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment

Khurram Liaqat et al. Clin Genet. 2023 Oct.

Abstract

A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.

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Conflict of interest statement

CONFLICTS OF INTEREST: The authors declare no conflict of interest.

Figures

Figure 1.
Figure 1.
Information on the DEM4669 family, KPTN protein, and identified variant. (a) Pedigree drawing of family DEM4669 with segregation of c.736C>T: p.(Gln246*). (b) Audiograms for the affected family members IV:1 and (c) IV:2. (d) Schematic representation of the kaptin protein domains, β sheets are shown as red boxes, and α-helices are shown as blue ellipsoids. Shown in bold is p.(Gln246*), the other variants were previously identified for KPTN gene-related syndrome. (e) Predicted model of wild type kaptin protein. The Gln246 residue is represented with a stick model. (f) The red color ribbon is lost in the p.Gln246* mutant form.
See this image and copyright information in PMC

References

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