Monogenic hearing loss

Gene: PRPS1

New review confirms gene status and mode of inheritance; no changes required.

Created: 1 Jun 2018, 2:46 p.m.

Green List (high evidence)

Inheritance: X-linked

Created: 10 Apr 2018, 3:34 p.m.

Mode of inheritance
Other

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Variants in this GENE are reported as part of current diagnostic practice

Inheritance:X-linked;X-linked recessive

Created: 9 Feb 2016, 10:06 a.m.

Inheritance:X-linked recessive;X-linked

Created: 7 Feb 2016, 4:52 p.m.

Inheritance:X-linked;X-linked recessive

Created: 7 Feb 2016, 3:42 p.m.

Inheritance:X-linked,X-linked recessive

Created: 7 Feb 2016, 9:25 a.m.

Inheritance:X-linked

Created: 7 Feb 2016, 8:57 a.m.

Mode of inheritance
Other

Phenotypes
#300661:Phosphoribosylpyrophosphate synthetase superactivity[Sensorineural hearing loss (early-onset form); Uric acid urolithiasisSecondary renal insufficiency; GoutGouty arthritis; Neurodevelopmental impairment (early-onset form)Hypotonia (early-onset form)Locomotor delay (early-onset form)Mental retardation (early-onset form)Ataxia (early-onset form); Overproduction of uric acid and purines; HyperuricemiaHyperuricosuriaIncreased activity of the PRPP synthetase 1 enzyme]; #301835:Arts syndrome[Poor growth; Hearing impairment, sensorineural; Optic atrophyLoss of visionNystagmus; Drooling; Recurrent respiratory tract infections; Dysphagia; Hypotonia, neonatalMuscle weakness, progressive; Delayed psychomotor developmentMental retardationLack of speechAtaxiaSeizuresFlaccid tetraplegiaHyperreflexia (less common)Absence of myelin in the posterior column of the spinal cord (1 patient); AreflexiaPeripheral neuropathy, progressiveDelayed motor nerve conduction velocities; Immune deficiencyIncreased susceptibility to infections; Reduced serum uric acidUndetectable urinary hypoxanthineDecreased PRPP synthetase activity in erythrocytes and fibroblasts]; #304500:Deafness, X-linked 1[Congenital hearing loss; Perceptive hearing loss]; #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5[Hearing loss, sensorineural, prelingual; Vision impairment, progressive (onset in late childhood or teens in some patients)Optic nerve atrophy (in some patients); Pes cavus; Delayed motor developmentDistal limb muscle weakness due to peripheral neuropathyDistal limb muscle atrophy due to peripheral neuropathyImpaired gait, some patients are never able to runAreflexia of the lower limbsDistal sensory impairmentNerve conduction velocities (NCV) may be normal or mildly decreased Sural nerve biopsy shows loss of both large and small myelinated fibersIncreased endoneurial collagenSegmental demyelination/remyelinationOnion bulb formations]

Publications

• PMID:10503584
• 15240907
• 168665
• 171280
• 17701896
• 17701900
• 1962753
• 20021999
• 20380929
• 2155397
• 217337
• 218284
• 22246954
• 2423135
• 24285972
• 2537655
• 4373874
• 6243137
• 7593598
• 8253776
• 8498830
• 8968763

Comment when marking as ready: Expert review and OMIM confirmed

Created: 29 Jan 2016, 4:16 p.m.