{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T02:49:03Z","timestamp":1768445343730,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>MBOAT7<\/jats:italic> gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5\u2010year\u2010old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole\u2010exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the <jats:italic>MBOAT7<\/jats:italic> gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen\u2010magnetic resonance spectroscopy (H\u2010MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of <jats:italic>MBOAT7\u2010<\/jats:italic>related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth.<\/jats:p>","DOI":"10.1002\/ajmg.a.61773","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T15:12:16Z","timestamp":1596467536000},"page":"2377-2383","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A patient with novel <i>MBOAT7<\/i> variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile"],"prefix":"10.1002","volume":"182","author":[{"given":"Marianna","family":"Farn\u00e8","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Santa Maria della Misericordia Hospital University of Perugia  Perugia Italy"},{"name":"Medical Genetics Unit, Department of Medical Sciences Ferrara University Hospital  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Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Rogaia","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Santa Maria della Misericordia Hospital University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Colavito","sequence":"additional","affiliation":[{"name":"Research&amp;Innovation Srl  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Di Cara","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Santa Maria della Misericordia Hospital University of Perugia  Perugia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Stangoni","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Santa Maria della Misericordia Hospital University of Perugia  Perugia 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