Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome
0
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.
Abstract
Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.
참고문헌 (16)
- Gorlin RJ, "Multiple lentigenes syndrome", Am J Dis Child, 117(6), pp.652~662 (1969)
- Seuanez H, "Cardio-cutaneous syndrome (the “LEOPARD” syndrome): review of the literature and a new family", Clin Genet, 9(3), pp.266~276 (1976)
- Digilio MC, "Grouping of multiple-lentigines", LEOPARD and Noonan syndromes on the PTPN11 gene, 2002, pp.71(2), 389~394
- Legius E, "PTPN11 mutations in LEOPARD syndrome", J Med Genet, 39(8), pp.571~574 (2002)
- Pandit B, "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy", Nat Genet, 39(8), pp.1007~1012 (2007)
- Voron DA, "Multiple lentigines syndrome: case report and review of the literature", Am J Med, 60(3), pp.447~456 (1976)
- Allanson JE, "Noonan phenotype associated with neurofibromatosis", Am J Med Genet, 21(3), pp.457~462 (1985)
- Ahlbom BE, "Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus", Clin Genet, 48(2), pp.85~89 (1995)
- Colley A, "Neurofibromatosis", Noonan phenotype: a variable feature of type 1 neurofibromatosis, 1996, pp.49(2), 59~64
- Coppin BD, "Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)", J Med Genet, 34(7), pp.582~586 (1997)
- Limongelli G, "Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome", Am J Cardiol, 100(4), pp.736~741 (2007)
- Limongelli G, "Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome", Am J Med Genet A, 146A(5), pp.620~628 (2008)
- Sarkozy A, "Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome", J Med Genet, 41(5), pp.e68~ (2004)
- Sarkozy A, "A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines", LEOPARD syndrome and Noonan-like, Eur J Hum Genet, pp.2004, 12(12)[DOI]
- Staller SJ, "Use of the Nucleus 22 channel cochlear implant system with children", Volta Rev, 96, pp.15~40 (1994)
- van der Burgt I, "Noonan syndrome", Orphanet J Rare Dis, 2, pp.4~ (2007)