Table 5. [FLNA Allelic Disorders]. - GeneReviews®

Disorder	Comment	References
Periventricular nodular heterotopia, X-linked (X-PVNH)	Neuronal migration disorder characterized by uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles Most affected persons are heterozygous females; males show early lethality. Assoc w/gastrointestinal dysmotility 1 female reported w/dual phenotype of PVNH & FMD1	FLNA-Related Periventricular Nodular Heterotopia, Zenker et al [2004], Hehr et al [2006], Gargiulo et al [2007], Kapur et al [2010]
Variant of X-linked periventricular nodular heterotopia	PVNH w/marked connective tissue dysfunction (skin fragility, vascular dilatation) described in females & males Assoc w/pathogenic variants predicted to → loss of function	Sheen et al [2005], Gómez-Garre et al [2006], Reinstein et al [2013]
Myxomatous cardiac valvular dystrophy	Not assoc w/other neurologic or skeletal manifestations Of note, cardiac valvular anomalies are assoc w/X-PVNH & some X-OPD spectrum disorders (e.g., FMD1).	OMIM 314400, Kyndt et al [2007], Lardeux et al [2011]
Congenital intestinal obstruction, X linked	Gastrointestinal dysmotility is the prime manifestation if causative pathogenic variants lie in the 5' coding region of an alternative transcript in the FLNA locus.	OMIM 300048, Kapur et al [2010], Jenkins et al [2018]

Disorder

Comment

References

Periventricular nodular heterotopia, X-linked (X-PVNH)

Neuronal migration disorder characterized by uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles
Most affected persons are heterozygous females; males show early lethality.
Assoc w/gastrointestinal dysmotility
1 female reported w/dual phenotype of PVNH & FMD1

Variant of X-linked periventricular nodular heterotopia

PVNH w/marked connective tissue dysfunction (skin fragility, vascular dilatation) described in females & males
Assoc w/pathogenic variants predicted to → loss of function

Sheen et al [2005], Gómez-Garre et al [2006], Reinstein et al [2013]

Myxomatous cardiac valvular dystrophy

Not assoc w/other neurologic or skeletal manifestations
Of note, cardiac valvular anomalies are assoc w/X-PVNH & some X-OPD spectrum disorders (e.g., FMD1).

OMIM 314400, Kyndt et al [2007], Lardeux et al [2011]

Congenital intestinal obstruction, X linked

Gastrointestinal dysmotility is the prime manifestation if causative pathogenic variants lie in the 5' coding region of an alternative transcript in the FLNA locus.

OMIM 300048, Kapur et al [2010], Jenkins et al [2018]

From: X-Linked Otopalatodigital Spectrum Disorders

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