Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India; Graduate Studies, Regional Centre for Biotechnology, Faridabad, Haryana, India.
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 500039, India.
Eur J Med Genet. 2022 Oct;65(10):104591. doi: 10.1016/j.ejmg.2022.104591. Epub 2022 Aug 10.
Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. To date, seven pathogenic variants have been reported in the FOXE1 gene causing Bamforth-Lazarus syndrome. Here we report a novel homozygous loss-of-function variant in the FOXE1 gene NM_004473.4:c.141dupC:p.(Leu49Profs*75) leading to congenital hypothyroidism due to thyroid agenesis, scalp hair abnormalities, cleft palate, small areola, cafe-au-lait spots, mild bilateral hearing loss, skin abnormalities, and facial dysmorphism. We describe the evolving phenotype in the patient with age and review previous variants reported in FOXE1. This report further expands the clinical and molecular spectrum of Bamforth-Lazarus syndrome.
巴姆福思-拉扎勒斯综合征是一种罕见的常染色体隐性遗传病，由 FOXE1 基因的双等位基因功能丧失变异引起。该疾病的特征为先天性甲状腺功能减退症，原因是甲状腺发育不全或发育不良、腭裂、毛发刺状、伴或不伴后鼻孔闭锁，以及会厌分叉。迄今为止，FOXE1 基因中已报道了七个导致巴姆福思-拉扎勒斯综合征的致病性变异。在此，我们报告了 FOXE1 基因 NM_004473.4:c.141dupC:p.(Leu49Profs*75)中的一个新的纯合性功能丧失变异，导致先天性甲状腺功能减退症，原因是甲状腺发育不全、头皮毛发异常、腭裂、小乳晕、咖啡牛奶斑、轻度双侧听力损失、皮肤异常和面部畸形。我们根据年龄描述了患者的进行性表型，并回顾了 FOXE1 中报道的以前的变异。本报告进一步扩展了巴姆福思-拉扎勒斯综合征的临床和分子谱。
