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A novel NDRG1 mutation in a non‐Romani patient with CMT4D / HMSN ‐Lom
Author(s) -
Piscosquito Giuseppe,
Magri Stefania,
Saveri Paola,
Milani Micaela,
Ciano Claudia,
Farina Laura,
Taroni Franco,
Pareyson Davide
Publication year - 2017
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12201
Subject(s) - frameshift mutation , mutation , medicine , medulla oblongata , sensorineural hearing loss , spinal cord , differential diagnosis , hereditary motor and sensory neuropathy , pathology , genetics , hearing loss , gene , disease , biology , audiology , central nervous system , psychiatry
Charcot‐Marie‐Tooth disease type 4D ( CMT4D ), also known as hereditary motor and sensory neuropathy Lom type ( HMSNL ), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N‐Myc downstream‐regulated gene 1 ( NDRG1 ) mutations. CMT4D is rare with only three known mutations, one of which (p. Arg148Ter ) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38‐year‐old Italian female with motor development delay, progressive neuropathy, and sensorineural deafness. Magnetic resonance imaging showed slight atrophy of cerebellum, medulla oblongata, and upper cervical spinal cord. She had a novel homozygous NDRG1 frameshift mutation (c. 739delC ; p. His247ThrfsTer74 ). The identification of this NDRG1 mutation confirms that CMT4D is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating CMT .