{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T11:59:19Z","timestamp":1782993559495,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T00:00:00Z","timestamp":1549584000000},"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":[[2019,4]]},"abstract":"<jats:p>The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in <jats:italic>AMMECR1<\/jats:italic> have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. In these cases, <jats:italic>AMMECR1<\/jats:italic> gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. In this article, we present two unrelated male patients with short stature, mild intellectual disability or neurodevelopmental delay, sensorineural hearing loss, and elliptocytosis harboring small microdeletions identified by array\u2010CGH involving <jats:italic>TMEM164<\/jats:italic> and <jats:italic>AMMECR1<\/jats:italic> genes and SNORD96B small nucleolar RNA for one patient, inherited from their mothers. These original cases further confirm that most specific AMME features are ascribed to <jats:italic>AMMECR1<\/jats:italic> haploinsufficiency. These cases reporting the smallest microdeletions encompassing <jats:italic>AMMECR1<\/jats:italic> gene provide new evidence for involvement of <jats:italic>AMMECR1<\/jats:italic> in the AMME phenotype and permit to discuss a phenotype related to <jats:italic>AMMECR1<\/jats:italic> haploinsufficiency: developmental delay\/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature.<\/jats:p>","DOI":"10.1002\/ajmg.a.61057","type":"journal-article","created":{"date-parts":[[2019,2,9]],"date-time":"2019-02-09T04:46:23Z","timestamp":1549687583000},"page":"650-654","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Xq22.3q23 microdeletion harboring <i>TMEM164<\/i> and <i>AMMECR1<\/i> genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis"],"prefix":"10.1002","volume":"179","author":[{"given":"Brice","family":"Poreau","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"},{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN  38000 Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Ramond","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Clinique Chromosomique et Mol\u00e9culaire, CHU\u2010H\u00f4pital Nord  Saint Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu","family":"Harbuz","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Satre","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"},{"name":"Equipe \"Genetics Epigenetics and Therapies of Infertility\" Institut Albert Bonniot, INSERM U823  La Tronche France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Barro","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'H\u00e9matologie, Oncog\u00e9n\u00e9tique, Immunologie Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Vettier","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'H\u00e9matologie, Oncog\u00e9n\u00e9tique, Immunologie Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Adouard","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Clinique Chromosomique et Mol\u00e9culaire, CHU\u2010H\u00f4pital Nord  Saint Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Simon","family":"Jouk","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Coutton","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"},{"name":"Equipe \"Genetics Epigenetics and Therapies of Infertility\" Institut Albert Bonniot, INSERM U823  La Tronche France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Clinique Chromosomique et Mol\u00e9culaire, CHU\u2010H\u00f4pital Nord  Saint Etienne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4362-4062","authenticated-orcid":false,"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation Centre Hospitalo\u2010Universitaire Grenoble Alpes  Grenoble Cedex France"},{"name":"Univ. 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