Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis
| Autor: | Renaud Touraine, Véronique Adouard, Pierre-Simon Jouk, Véronique Satre, Radu Harbuz, Claire Vettier, Claire Barro, Charles Coutton, Francis Ramond, Julien Thevenon, Brice Poreau, Klaus Dieterich |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Nephritis Hereditary Short stature Contiguous gene syndrome Craniofacial Abnormalities Elliptocytosis Intellectual Disability Intellectual disability Genetics medicine Humans Alport syndrome Child Genetics (clinical) Exome sequencing Chromosomes Human X business.industry Elliptocytosis Hereditary Membrane Proteins Proteins Genetic Diseases X-Linked AMMECR1 Prognosis medicine.disease Chromosome Deletion medicine.symptom business Haploinsufficiency |
| Zdroj: | American Journal of Medical Genetics Part A. 179:650-654 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.61057 |
| Popis: | 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 AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. In these cases, AMMECR1 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-CGH involving TMEM164 and AMMECR1 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 AMMECR1 haploinsufficiency. These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. |
| Databáze: | OpenAIRE |
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