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First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2019

Kharrat Marwa, Triki Chahnez, Maalej Marwa, Ncir Sihem, Ammar Marwa, Kammoun Fatma, Fakhfakh Faiza

Abstract excerpt

Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such as X-linked mental retardation, severe neonatal encephalopathy and Angelman-like syndrome (AS-like). Accordingly, we report the clinical, molecular and...

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PMID: 31647993
DOI: 10.1016/j.ijdevneu.2019.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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