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. 2017 May 11;3(3):e153.
doi: 10.1212/NXG.0000000000000153. eCollection 2017 Jun.

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

Elina Kari  1 , Isabelle Schrauwen  1 , Lorida Llaci  1 , Laurel M Fisher  1 , John L Go  1 , Marcus Naymik  1 , James A Knowles  1 , Matthew J Huentelman  1 , Rick A Friedman  1
Affiliations

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

Elina Kari et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Imaging, pedigree, and anger sequencing of a child with absent cochlear nerve
(A) Coronal high-resolution CT of a bifid and narrow internal auditory canal (IAC). (B) Axial high-resolution CT showing a pinpoint cochlear aperture (arrow) and an enlarged vestibule (arrowhead). Cochlear partitioning was normal, but the modiolus was bony and semicircular canals were dysplastic (not shown). (C) Axial high-resolution heavily T2-weighted (constructive interference in steady state [CISS]/fast imaging employing steady-state acquisition [FIESTA]) MRI of IACs bilaterally showing narrow IACs, one nerve in right IAC (short arrow) and nothing seen in left IAC (long arrow). Oblique cross-sectional imaging confirmed findings (not shown). (D) Family pedigree showing the mutations in MASP1. (E) Sanger sequencing traces showing the mutations inherited in the pedigree.
See this image and copyright information in PMC

References

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