2020
DOI: 10.1055/s-0040-1710540
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A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Abstract: Microcephaly is defined by a head circumference that is at least two standard deviations below the mean for age and sex of the general population in a specific race. Primary microcephaly may occur as an isolated inborn error, which may damage to the central nervous system or as part of the congenital abnormalities associated with genetic syndrome, affecting multiple organ systems. One of the syndromic forms consists of microcephaly, seizures, and developmental delay caused by biallelic mutations in the gene th… Show more

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Cited by 1 publication
(3 citation statements)
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“…The variant c.968C>T, p.(Thr323Met) has previously been reported in a homozygous state in an 11 month‐old male patient (Vázquez et al, 2020). Apart from microcephaly, seizures, and developmental delay, both present with brain abnormalities, are non‐ambulatory, and cannot talk (Table 1), Neither this and our patient presented with ocolumotor apraxia, which was reported for the homozygous variant c.1299‐3C>G (Taniguchi‐Ikeda et al, 2018).…”
Section: Discussionmentioning
confidence: 85%
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“…The variant c.968C>T, p.(Thr323Met) has previously been reported in a homozygous state in an 11 month‐old male patient (Vázquez et al, 2020). Apart from microcephaly, seizures, and developmental delay, both present with brain abnormalities, are non‐ambulatory, and cannot talk (Table 1), Neither this and our patient presented with ocolumotor apraxia, which was reported for the homozygous variant c.1299‐3C>G (Taniguchi‐Ikeda et al, 2018).…”
Section: Discussionmentioning
confidence: 85%
“…The variants were identified as the missense variant c.968C>T [p.Thr323Met], located in exon 11, and the putative splice acceptor site variant c.1299-3C>G, located in intron 14. The variant c.968C>T [p.Thr323Met] was paternally inherited and has been reported previously in MCSZ (Lindy et al, 2018;Vázquez et al, 2020). Thr323 is located in the DNA phosphatase domain of PNKP and is highly conserved.…”
Section: Molecular Geneticsmentioning
confidence: 78%
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