[P2-178] A Netrin G1 mutation in a patient with atypical Rett syndrome
Rett’s syndrome is the second leading cause of mental retardation in females. Mutations within the methyl-cytosine-phosphate-guanosine dinucleotide binding protein 2 gene (MECP2) cause 70-80 % of reported cases of Rett syndrome. Other known genetic causes of Rett syndrome include CDKL5, Netrin G1, and FOXG1
A 19-months-old girl visited our clinic with chief complaints of global developmental delay. She was born uneventfully at term. At the time of visiting, she was able to sit alone, crawl and stand with holding. Language development was also delayed, being able to speak only mama. She had microcephaly, low set ear with left microtia, and fish mouth. In the initial neurologic examination, no abnormal findings were found. Her brain MRI showed no abnormality. Genetic analysis including chromosomal analysis, MECP2, methylation specific allele PCR for detection of Angelman syndrome were all normal. During the follow-up, she showed slow catch-up of development. She could walk alone at the age of 34 months, and speak a few words at 40 months of age. She could some purposeful hand movements and stereotypy of hands was not definite. But she showed intellectual disability, and clinical seizure was noticed at the age of 7 years. In additional test, de novo partial deletion of the Netrin G1 (NTNG1) gene was detected by MLPA. Here, we report a case with atypical Rett syndrome, speech variant, with slow catch up development with a partial deletion of NTNG1.
A 19-months-old girl visited our clinic with chief complaints of global developmental delay. She was born uneventfully at term. At the time of visiting, she was able to sit alone, crawl and stand with holding. Language development was also delayed, being able to speak only mama. She had microcephaly, low set ear with left microtia, and fish mouth. In the initial neurologic examination, no abnormal findings were found. Her brain MRI showed no abnormality. Genetic analysis including chromosomal analysis, MECP2, methylation specific allele PCR for detection of Angelman syndrome were all normal. During the follow-up, she showed slow catch-up of development. She could walk alone at the age of 34 months, and speak a few words at 40 months of age. She could some purposeful hand movements and stereotypy of hands was not definite. But she showed intellectual disability, and clinical seizure was noticed at the age of 7 years. In additional test, de novo partial deletion of the Netrin G1 (NTNG1) gene was detected by MLPA. Here, we report a case with atypical Rett syndrome, speech variant, with slow catch up development with a partial deletion of NTNG1.