Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness

The Annals of Otology, Rhinology, and Laryngology
Hidekane YoshimuraShin-Ichi Usami

Abstract

This study examines ABHD12 mutation analysis in 2 PHARC patients, originally thought to be Usher syndrome. The ABHD12 gene of 2 patients, who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems, were sequenced. We identified that both cases carried the same novel splice site mutation in the ABHD12 gene. However, 1 had epilepsy and the other had peripheral neuropathy. Based on haplotype analysis, the mutation is likely not a hot spot, but rather could be attributable to a common ancestor. This study shows that PHARC has phenotypic variability, even within a family, which is consistent with previous reports. Differential diagnosis of "deaf-blindness" diseases is crucial. Confirming the presence of associated symptoms is necessary for differentiating some deaf-blindness syndromes. In addition, mutation analysis is a useful tool for confirming the diagnosis.

References

Mar 1, 1965·Journal of the Neurological Sciences·P Flynn, R B Aird
Jan 11, 2003·American Journal of Human Genetics·Daan M van den BrinkRonald J A Wanders
Nov 14, 2008·Neurology·T FiskerstrandL A Bindoff
Apr 10, 2010·Journal of Human Genetics·Denise Yan, Xue Z Liu

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Citations

Apr 28, 2017·Journal of the Peripheral Nervous System : JPNS·Justine LeratAnne-Sophie Lia
Feb 23, 2020·Journal of the Peripheral Nervous System : JPNS·Andreas ThimmMark Stettner
May 7, 2020·Ophthalmic Genetics·Rosalie M NolenWadih M Zein
Aug 9, 2020·The Journal of Membrane Biology·Karthik ShanbhagSiddhesh S Kamat
May 28, 2021·Ear and Hearing·Eric NisenbaumXuezhong Liu

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Methods Mentioned

BETA
cochlear implant
PCR

Software Mentioned

Primer3

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