Second‐trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

Wax, Joseph R.; Pinette, Michael G.; Smith, Rosemarie; Chard, Renée; Cartin, Angelina

doi:10.1002/jcu.22065

Cited by 7 publications

(4 citation statements)

References 15 publications

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“…Duplications overlapping the entire MECP2 gene are associated with MECP2 duplication syndrome characterized by global developmental delay, intellectual disability, autistic features, epilepsy and recurrent infections [ 20 ]. Patients with MECP2 triplications have also been reported with more severe phenotypes [ 21 ]. Cornelia de Lange syndrome is a multisystem congenital anomaly disorder and mutations or deletions of NIPBL gene is a major cause for this condition [ 22 ].…”

Section: Resultsmentioning

confidence: 99%

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

et al. 2015

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BackgroundMowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome 2q22.3. At present, over 190 cases with mutations and deletions involving the ZEB2 gene have been reported, but triplication or duplication of reciprocal region of Mowat-Wilson syndrome has never been reported.Case PresentationHere we report a 2-year-2-month-old boy carrying a de novo 2.9 Mb complex copy number gain at 2q22.3 involving triplication of ZEB2 gene. The boy is characterized by intrauterine growth retardation, hypotonia, cognitive impairment, multiple congenital anomalies and behavioral abnormalities.ConclusionThis case provides evidence that triplication of ZEB2 gene may be clinical significance and ZEB2 gene is likely to be a dosage sensitive gene.

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Section: Resultsmentioning

confidence: 99%

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

et al. 2015

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“…They have been reported in tandem in the same Xq28 region, translocated to the Xp arm, or even outside the X chromosome [47,87,92,123]. Cases of MECP2 triplications have also been described in males [57,68,82,84,93,104].…”

Section: Characteristics Of the Duplicationmentioning

confidence: 99%

MECP2-Related Disorders in Males

Pascual‐Alonso

Martinez‐Monseny

Xiol

et al. 2021

IJMS

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Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females. In boys, however, mutations in MECP2 can generate a wide spectrum of clinical presentations that range from mild intellectual impairment to severe neonatal encephalopathy and premature death. Thus, males can be more difficult to classify and diagnose than classical RTT females. In addition, there are some variants of unknown significance in MECP2, which further complicate the diagnosis of these children. Conversely, the entire duplication of the MECP2 gene is related to MECP2 duplication syndrome (MDS). Unlike in RTT, in MDS, males are predominantly affected. Usually, the duplication is inherited from an apparently asymptomatic carrier mother. Both syndromes share some characteristics, but also differ in some aspects regarding the clinical picture and evolution. In the following review, we present a thorough description of the different types of MECP2 variants and alterations that can be found in males, and explore several genotype–phenotype correlations, although there is still a lot to understand.

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“…Through available genetic testing reports, approximately four-fifths of MECP2 duplications have been shown to be inherited, mainly maternal [ 1 – 5 , 8 , 9 , 12 , 14 – 20 , 22 – 25 , 28 , 32 , 34 , 36 – 40 , 42 – 44 , 46 , 48 , 52 , 53 , 55 , 56 , 61 , 63 – 65 , 67 – 69 , 73 , 75 , 77 – 79 , 81 , 83 , 86 ], and one-fifth to arise de novo [ 5 , 9 , 11 , 16 , 17 , 21 , 23 , 26 , 27 , 29 , 32 , 33 , 43 , 45 , 47 , 54 , 56 , 65 , 70 , 74 , 77 – 79 , 81 , 83 ]. Paternally inherited MECP2 duplications are less common [ 7 , 35 , 41 , 55 , 59 , 70 , 74 ].…”

Section: Evidence Of a New X-linked Intellectual Disability Syndrome:...mentioning

confidence: 99%

“…Congenital heart disease (CHD) may be an underreported phenomenon in MDS [ 115 ]. When MDS is diagnosed neonatally [ 45 ] or in infancy, children should have echocardiograms to screen for CHD. As such, further attention to the cardiovascular profile of patients with MDS is required in future studies.…”

Section: The Syndromic Phenotype Of Mecp2 Duplicat...mentioning

confidence: 99%

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

Downs

Baynam

et al. 2022

Orphanet J Rare Dis

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MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene—a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features—although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999. After comprehensively reviewing the reported characteristics, this review has identified areas of limited knowledge that we recommend may be addressed by better phenotyping this disorder through an international data collection. This endeavour would also serve to delineate the clinical overlap between MDS and RTT.

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Second‐trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

Cited by 7 publications

References 15 publications

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

MECP2-Related Disorders in Males

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

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