C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child
F. ALFIYA MANNA JOSE SOUMYA V. CHANDRASEKHARAN SOUMYA SUNDARAM MADHUSOODANAN URULANGODI BEJOY THOMAS ASHALATHA RADHAKRISHNAN MOINAK BANERJEE RAMSHEKHAR N. MENON
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Open reading frame variants which lack stop codons such as C12orf57 variants are known to cause Temtamy syndrome, an extremely rare disorder characterized by intellectual disability, seizures, facial dysmorphism and agenesis of corpus callosum. C12orf57 was initially reported to be required for human corpus callosum development. We report the first child who is of Indian origin with developmental and epileptic encephalopathy (DEE) with a unique phenotypic evolution as focal onset reflex seizures. We performed wholeexome sequencing of genomic DNA isolated from peripheral blood samples of proband and his parents. Two pathogenic compound heterozygous variants, a start loss variant (Chr12:7053285:c.1A>G) and a premature stop gain variant (Chr12:7053327:c.43C>T), involving the C12orf57 gene were identified in the proband. Our case report which details genotyping in this rare syndromic developmental encephalopathy, with no prior cases reported from India, expands the ethnic spectrum of patients.
F. ALFIYA1 MANNA JOSE1 SOUMYA V. CHANDRASEKHARAN1 SOUMYA SUNDARAM1 MADHUSOODANAN URULANGODI2 BEJOY THOMAS3 ASHALATHA RADHAKRISHNAN1 MOINAK BANERJEE4 RAMSHEKHAR N. MENON1
Volume 102, 2023
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