Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males

Gérard-Blanluet, Marion; Sheen, Volney L.; Machinis, Kalotina; Neal, Jason; Apse, Kira; Danan, Claude; Sinico, M; Brugières, Pierre; Mage, K.; Ratsimbazafy, Lanto; Elbez, Annie; Janaud, Jean-Claude; Amselem, Serge; Walsh, Christopher A.; Encha‐Razavi, Férechté

doi:10.1002/ajmg.a.31197

Cited by 23 publications

(20 citation statements)

References 15 publications

(31 reference statements)

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“…Recent reports suggest that neuropathological anomalies and clinical mental retardation seen in an affected male subject with the BPNH disorder could result from a mutation of the FLNA gene. 16,17 Until now, no duplication has been found to be responsible for MR in any of these genes. However, the implication of duplications in the MECP2 region, also mapping in Xq28, has recently been described in severe MR. 18 Thus, we examined our patient to determine whether the duplication expanded to the MECP2 region.…”

Section: Discussionmentioning

confidence: 99%

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Madrigal

Rodríguez‐Revenga

Badenas

et al. 2007

Genetics in Medicine

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Purpose: Routine protocols for the study of mental retardation include karyotype, analysis for fragile X syndrome, and subtelomeric rearrangements. Nevertheless, detection of cryptic rearrangements requires more sensitive techniques. Mutation screening in all known genes responsible for X-linked mental retardation is not feasible, and linkage analysis is sometimes limited. Multiplex ligation probe amplification is a recently developed technique based on the amplification of specific probes that allows relative quantification of 40 to 46 different target DNA sequences in a single reaction. Methods: In the present study, we assessed multiplex ligation probe amplification for the detection of microduplications/microdeletions in 80 male patients with suspicion of X-linked mental retardation. Results: We detected four copy number aberrations (5%): three duplications (GDI1, RPS6KA3, and ARHGEF6) and one deletion (OPHN1). All these changes were confirmed by other molecular techniques, and patients were clinically re-evaluated. Conclusions: We strongly recommend the use of multiplex ligation probe amplification as a first screening method for the detection of copy number aberrations in patients with mental retardation because of its cost-effectiveness. Genet Med 2007:9(2):117-122.

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Section: Discussionmentioning

confidence: 99%

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Madrigal

Rodríguez‐Revenga

Badenas

et al. 2007

Genetics in Medicine

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“…She required a lobectomy for right middle lobe emphysema. A third report by Gérard-Blanluet et al 16 described the clinical course of twin boys born at 26 weeks of gestation, a girl born prematurely at 24 weeks of gestation, and another girl born at 35 weeks of gestation to a family with a filamin A mutation (7922C3 T) and periventricular nodular heterotopia. The 3 extremely premature newborns developed respiratory distress from birth and diffuse lung disease thought to be due to BPD and not related to the filamin A mutation since the child born at 35 weeks of gestation did not present any signs of lung disease.…”

Section: Discussionmentioning

confidence: 99%

Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns

Lord¹,

Shapiro

Saint‐Martin³

et al. 2014

Respir Care

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Bronchopulmonary dysplasia (BPD) is a common long-term complication in premature newborns requiring ventilatory support and is the most common cause of chronic diffuse lung disease in this population. We present the clinical course of a premature newborn with a complicated neonatal respiratory course that was initially thought to be related to BPD, but it did not respond to the typical therapies for this condition. Due to the findings of periventricular nodular heterotopia, the diagnosis of a filamin A gene mutation was eventually made, which explained the respiratory pathology of this patient. When time of onset and clinical course do not correlate with typical BPD, one should consider alternative diagnoses in premature infants, including neonatal diffuse lung disease. Key words: bronchopulmonary dysplasia; filamin A (FLNA) mutation; heterotopia; diffuse lung disease; newborn. [Respir Care 2014;59(11):e171-e177.

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“…All four cardiac valves can be variably involved (dystrophy, prolapse or stenosis) but PH and great artery ectasia have not been reported as features of XCVD. 13,[25][26][27] It is unknown if joint hyperextensibility is part of this presentation. Missense mutations or intragenic deletions within exons encoding the rod domain of FLNA, constituting presumptive hypomorphic FLNA alleles, underlie this phenotype in males.…”

Section: Discussionmentioning

confidence: 99%

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

et al. 2012

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Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.

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Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males

Cited by 23 publications

References 15 publications

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

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