Table of Contents

HK J Paediatr (New Series)
Vol 28. No. 1, 2023

HK J Paediatr (New Series) 2023;28:36-40

Case Report

The Novel Homozygous ADCY6 c.413G>A; p.R138H gene Variant Associated with Lethal Congenital Contracture Syndrome 8 in a Female Patient with Epilepsy and Pachygyria

S Yimenicioğlu, A Kocaağa, B Paksoy


Lethal congenital contracture syndrome 8 consists of multiple joint contractures at birth, hypertonia, decreased tendon reflexes, and respiratory insufficiency. The related gene is the ADCY6 gene. The gene encodes a protein, that converts adenosine triphosphate to cyclic adenosine monophosphate (cAMP). Previous reports have suggested that Schwann cells require signaling from cAMP to initiate myelination. Here, we present a new patient with a novel homozygous ADCY6 missense variant (c.413G>A; p.R138H) with epilepsy, pachygyria, and long survival.

Keyword : ADCY6 gene; Epilepsy; Lethal congenital contracture syndrome; Pachygyria


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