Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

详细信息    查看全文

• 作者：Sabina Pena B. Pê ; go ; DDS ; PhD^a ; ^{sabinapego@yahoo.com.br} ; Ricardo D. Coletta ; DDS ; PhD^b ; Simona Dumitriu ; MD ; PhD^c ; Daniela Iancu ; MD ; PhD^c ; Saleh Albanyan ; MD^c ; Robert Kleta ; MD ; PhD^c ; Maria Teresa Auricchio ; PhD^d ; Luis Antô ; nio Santos ; DDS ; PhD^a ; Breno Rocha ; DDS^a ; Hercí ; lio Martelli-Jú ; nior ; DDS ; PhD^a
• 刊名：Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：123
• 期：2
• 页码：229-234.e2
• 全文大小：2086 K
• 卷排序：123

文摘

Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m.A1555 G mutation), were not found. These results suggest a putative function of FAM20 A in the development of the inner ear and in the formation of hair. The presence of nephrocalcinosis is a risk factor for renal impairment, and it is important to perform regular renal monitoring in order to avoid renal failure.