disease: Boucher Neuhauser syndrome

nameBoucher Neuhauser syndrome
descriptionPNPLA6-related disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia, upper motor neuron involvement manifesting as spasticity and/or brisk reflexes, chorioretinal dystrophy associated with variable degrees of reduced visual function, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics), either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting), hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia), short stature, and impaired cognitive functioning (learning disabilities in children and deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).
variant-disease NM_006702.5(PNPLA6):c.3295C>T (p.Arg1099Cys) AND Boucher Neuhauser syndrome
NM_006702.5(PNPLA6):c.3029C>T (p.Thr1010Ile) AND Boucher Neuhauser syndrome
NM_006702.5(PNPLA6):c.1126dup (p.Asp376fs) AND Boucher Neuhauser syndrome
NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C] AND Boucher Neuhauser syndrome
NM_006702.5(PNPLA6):c.3184G>A (p.Val1062Met) AND Boucher Neuhauser syndrome
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