Department of Pediatrics, Endocrinology Division, King Abdulaziz Medical City-Riyadh, Riyadh, Saudi Arabia.
Diabetes Care. 2013 Mar;36(3):557-61. doi: 10.2337/dc12-1174. Epub 2012 Nov 12.
To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers.
Genetic testing identified the previous described homozygous deletion in 11p15, USH1C:c.(90+592)_ABCC8:c.(2694-528)del. Fourteen patients had severe CHI demanding near-total pancreatectomy. In one patient with mild, transient neonatal hypoglycemia and nonautoimmune diabetes at age 11 years, no additional mutations were found in HNF1A, HNF4A, GCK, INS, and INSR. Retinitis pigmentosa was found in two patients aged 9 and 13 years. No patients had enteropathy or renal tubular defects. Neuromotor development ranged from normal to severe delay with epilepsy.
The phenotype of Homozygous 11p15-p14 Deletion syndrome, or Usher-CHI syndrome, includes any severity of neonatal-onset CHI and severe, sensorineural hearing loss. Retinitis pigmentosa and nonautoimmune diabetes may occur in adolescence.
评估 15 名先天性高胰岛素血症（CHI）合并严重听力损失患儿的表型，这些患儿被称为 11p15-p14 纯合缺失综合征（MIM #606528）。
通过直接测序、多重连接依赖性探针扩增和微卫星标记进行前瞻性临床随访和遗传分析。
基因检测发现了先前描述的 11p15 纯合缺失，USH1C:c.(90+592)_ABCC8:c.(2694-528)del。14 名患者患有严重的 CHI，需要进行近全胰切除术。在一名 11 岁时患有轻度、短暂新生儿低血糖和非自身免疫性糖尿病的患者中，未在 HNF1A、HNF4A、GCK、INS 和 INSR 中发现其他突变。两名 9 岁和 13 岁的患者患有视网膜色素变性。无患者存在肠病或肾小管缺陷。神经运动发育从正常到严重延迟伴癫痫。
11p15-p14 纯合缺失综合征或 Usher-CHI 综合征的表型包括任何严重程度的新生儿起病 CHI 和严重的感觉神经性听力损失。视网膜色素变性和非自身免疫性糖尿病可能在青少年时期发生。
