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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation.

Abstract：

:Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric manifestation, namely a severe form of secondary high-functioning autism spectrum disorder (ASD), along with affective and psychotic exacerbations, and severe dental enamel defects (with rapid wearing off his teeth) due to a heterozygous loss-of-function mutation in the CACNA1C gene (NM_000719.6: c.2399A > C; p.Lys800Thr). This mutation was found only once in control databases; the mutated lysine is located in the Cav1.2 calcium channel, is highly conserved during evolution, and is predicted to affect protein function by most pathogenicity prediction algorithms. L-type Cav1.2 calcium channels are widely expressed in the brain and heart. In the case presented, electrophysiological studies revealed a prominent reduction in the current amplitude without changes in the gating behavior of the Cav1.2 channel, most likely due to a trafficking defect. Due to the demonstrated loss of function, the p.Lys800Thr variant was finally classified as pathogenic (ACMG class 4 variant) and is likely to cause a newly described Cav1.2 channelopathy.

journal_name

Int J Mol Sci

journal_title

International journal of molecular sciences

authors

Endres D,Decher N,Röhr I,Vowinkel K,Domschke K,Komlosi K,Tzschach A,Gläser B,Schiele MA,Runge K,Süß P,Schuchardt F,Nickel K,Stallmeyer B,Rinné S,Schulze-Bahr E,Tebartz van Elst L

doi

10.3390/ijms21228611

subject

Has Abstract

pub_date

2020-11-15 00:00:00

issue

22

issn

1422-0067

pii

ijms21228611

journal_volume

21

pub_type

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