Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. Am J Med Genet A 2003 Aug 01;120A(4):474-82
Date
07/29/2003Pubmed ID
12884425DOI
10.1002/ajmg.a.20126Scopus ID
2-s2.0-0041322647 (requires institutional sign-in at Scopus site) 52 CitationsAbstract
Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations ("CVS+"). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non-senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia-like symptoms, were far more common in matrilineal versus non-matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (P < 0.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this "severe" end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia.
Author List
Boles RG, Adams K, Ito M, Li BUAuthor
B Ulysses Kwang Li Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Antidepressive Agents, TricyclicAutonomic Nervous System Diseases
Child
DNA, Mitochondrial
Female
Humans
Male
Migraine Disorders
Mitochondrial Diseases
Mothers
Mutation
Neuromuscular Diseases
Pedigree
Syndrome
Vomiting
