Qiu Jiayong, Lou Yao, Zhu Yingwei, Wang Min, Peng Huifang, Hao Yingying, Jiang Hongwei, Mao Yimin
Department of Respiratory Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Department of Endocrinology, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Front Genet. 2022 Jan 19;12:768342. doi: 10.3389/fgene.2021.768342. eCollection 2021.
Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases. In this study, we describe an extremely rare family with BHD syndrome and CCA. To investigate the clinical and genetic characteristics of a family with BHD syndrome and CCA. We describe the clinical characteristics, family history, and clinical manifestations of the patient's family members. The patient underwent a blood test, computed tomography (CT) of the chest, color Doppler ultrasound of the abdomen and heart, and digital radiography of the hands. Whole exome sequencing was performed on his family members. Two years ago, the male proband developed chest tightness and shortness of breath that was accompanied by an irritating cough as well as repeated (four times) spontaneous pneumothorax. The chest CT indicated spontaneous pneumothorax on the right side and cyst and bullae in both lungs. He had no kidney tumors or skin lesions. His son had a history of pulmonary bullae and experienced spontaneous pneumothorax twice. The proband, his mother, and his son were all born with a hand deformity. The sequencing results demonstrated that both the proband and his son had heterozygous variations of the folliculin (FLCN) gene c.1015C > T (p. Gln339Ter) and fibrillin-2 (FBN2) gene c.3485G > A (p. Cys1162Tyr), which are associated with BHD syndrome and CCA, respectively. For patients with chest tightness, shortness of breath, recurrent spontaneous pneumothorax, and congenital hand deformity without inducement, genetic testing should be carried out as soon as possible to make a clear diagnosis, which can then guide treatment and genetic counseling.
Birt-Hogg-Dubé（BHD）综合征和先天性挛缩性蜘蛛指（CCA）或Beals-Hecht综合征是临床上罕见的常染色体显性遗传病。在本研究中，我们描述了一个患有BHD综合征和CCA的极其罕见的家系。为了研究一个患有BHD综合征和CCA的家系的临床和遗传特征。我们描述了患者家庭成员的临床特征、家族史和临床表现。患者接受了血液检查、胸部计算机断层扫描（CT）、腹部和心脏彩色多普勒超声检查以及手部数字X线摄影。对其家庭成员进行了全外显子组测序。两年前，男性先证者出现胸闷、气短，伴有刺激性咳嗽以及反复（四次）自发性气胸。胸部CT显示右侧自发性气胸以及双肺囊肿和肺大疱。他没有肾肿瘤或皮肤病变。他的儿子有肺大疱病史，曾两次发生自发性气胸。先证者、他的母亲和儿子均出生时手部畸形。测序结果表明，先证者和他的儿子分别具有卵泡抑素（FLCN）基因c.1015C>T（p.Gln339Ter）和原纤蛋白-2（FBN2）基因c.3485G>A（p.Cys1162Tyr）的杂合变异，分别与BHD综合征和CCA相关。对于出现胸闷、气短、反复自发性气胸且无诱因的先天性手部畸形患者，应尽快进行基因检测以明确诊断，从而指导治疗和遗传咨询。
