{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:18:30Z","timestamp":1764782310876,"version":"3.44.0"},"reference-count":18,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,10,4]]},"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN\/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in <jats:italic>SLC12A6<\/jats:italic> (solute carrier family 12, member 6) encoding the K+\u2013Cl- transporter KCC3 have been identified as the genetic cause of HMSN\/ACC. We describe fraternal twins with compound heterozygous mutations in <jats:italic>SLC12A6<\/jats:italic> and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8\/28 in the brother and 5\/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in <jats:italic>SLC12A6<\/jats:italic>, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.<\/jats:p>","DOI":"10.1136\/bcr-2021-244641","type":"journal-article","created":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T13:06:50Z","timestamp":1635340010000},"page":"e244641","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the phenotype of <i>SLC12A6<\/i>-associated sensorimotor neuropathy"],"prefix":"10.1136","volume":"14","author":[{"given":"Petya","family":"Bogdanova-Mihaylova","sequence":"first","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"McNamara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Burton-Jones","sequence":"additional","affiliation":[{"name":"South West Genomics Laboratory Hub, Severn Pathology, Southmead Hospital, Bristol, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sin\u00e9ad M","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital, Dublin, Ireland"},{"name":"Academic Unit of Neurology, Trinity College Dublin, Dublin, 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new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?","volume":"24","author":"Degerliyurt","year":"2013","journal-title":"Genet Couns"},{"key":"2025082723272294000_14.10.e244641.13","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000291779.35643.15"},{"key":"2025082723272294000_14.10.e244641.14","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.226894"},{"key":"2025082723272294000_14.10.e244641.15","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-317319"},{"key":"2025082723272294000_14.10.e244641.16","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.4103\/0028-3886.236987","article-title":"Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN\/ACC) in a non-French-Canadian family","volume":"66","author":"Rius","year":"2018","journal-title":"Neurol 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