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HK J Paediatr (New Series)
Vol 28. No. 1,
2023
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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 Pediatric Neurologist, Health Ministery Eskisehir City Hospital, Eskişehir, Turkey
S Yimenicioğlu MD Department of Genetics, Health Ministery Eskisehir City Hospital Eskişehir, Turkey
A Kocaağa MD
B Paksoy MD Correspondence to: Dr S Yimenicioğlu
Email: sevgifahri@yahoo.com Received March 3, 2021
Abstract 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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