Multiple congenital anomalies-hypotonia-seizures syndrome 3 secondary to phosphatidylinositol glycan class T mutation: a neonatal case report

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dc.contributor.authorRanjan, Ankiten_US
dc.contributor.authorAlam, M. Shahbazen_US
dc.contributor.authorKumar, Vinoden_US
dc.contributor.authorSamanta, Snigdhaen_US
dc.contributor.authorKumar, Rajeshen_US
dc.contributor.authorSaifullah, Khalid M.en_US
dc.date.accessioned2024-09-24T07:13:52Z
dc.date.available2024-09-24T07:13:52Z
dc.date.issued2023-03
dc.description.abstractMultiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is caused by genetic defects in glycosyl-phosphatidylinositol transamidase complex synthesis due to mutations in the PIGT gene. The disease encompasses dysmorphism, cardiac, genito-urinary and skeletal anomalies, developmental delay and epilepsy in variable severity. Only 39 such cases have been reported till date in literature. We reported the first Indian case with neonatal presentation and overall the sixth case of MCAHS3 to present in neonatal age. The pro-band was a male baby born to non-consanguineous parents. He had perinatal depression, craniofacial dysmorphism, epileptic encephalopathy, left radio-ulnar congenital fractures and respiratory failure managed with multiple anti-epileptics, invasive ventilation and limb splinting. Clinical exome sequencing revealed an autosomal recessive homozygous PIGT gene mutation on exon 6 of chromosome 20 with a variant nomenclature of C.709G>C with heterozygous parents confirming MCAHS3. This report expands the range of information available on MCAHS3. It highlights the need to elaborately investigate dysmorphic newborns with severe hypotonia along with the described neurological symptoms, so as to pin point this potentially diagnosable entity.en_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.affiliationsDepartment of Neonatology, Rani Hospital, Ranchi, Jharkhand, Indiaen_US
dc.identifier.citationRanjan Ankit, Alam M. Shahbaz, Kumar Vinod, Samanta Snigdha, Kumar Rajesh, Saifullah Khalid M.. Multiple congenital anomalies-hypotonia-seizures syndrome 3 secondary to phosphatidylinositol glycan class T mutation: a neonatal case report . International Journal of Contemporary Pediatrics. 2023 Mar; 10(3): 394-397en_US
dc.identifier.issn2349-3283
dc.identifier.issn2349-3291
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/228365
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber3en_US
dc.relation.volume10en_US
dc.source.urihttps://doi.org/10.18203/2349-3291.ijcp20230443en_US
dc.subjectCongenital fracture, MCAHS3, PIGT, Homozygous mutation, Hypotoniaen_US
dc.titleMultiple congenital anomalies-hypotonia-seizures syndrome 3 secondary to phosphatidylinositol glycan class T mutation: a neonatal case reporten_US
dc.typeJournal Articleen_US
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