关键词: 　LMNA基因；　突变；　下颌骨肢端发育不良伴A型脂肪代谢障碍；　高通量测序

Abstract: 　Objective　To explore the clinical features of mandibuloacral dysplasia type A (MADA) caused by LMNA gene mutation. Methods　The clinical data of LMNA homozygous mutation in a child and the results of gene detection in the family were retrospectively analyzed, and the related literature was reviewed. Results　A 7-year-old girl suffered from postnatal growth restriction, specific facial features (round face, double eyelid pigmentation, beak-shaped nose, crack with crowded dentition, malocclusion, tooth hypoplasia), skeletal deformities (micrognathia, bilateral clavicle hypoplasia, short rod-shaped finger/toe end), sparse and lusterless hair, pigmented skin with poor elasticity, poor finger/toenail development, limited movement and incomplete squats due to stiff elbows and knees, thin subcutaneous fat of limbs and trunk, normal muscle strength, and excellent academic performance. The parents and the older sister of the child had normal phenotypes, and the younger brother had similar but less severe clinical manifestations. High throughput sequencing analysis revealed homozygous missense mutation c.1580G>A, p.Arg527His in the LMNA gene (NM-170707.3) of both the child and her younger brother, and heterozygous mutation of this locus was carried by both her parents. Conclusion　MADA has characteristic clinical manifestations, and genetic testing can further confirm the diagnosis.

Key words: LMNA gene;　mutation;　mandibuloacral dysplasia type A;　high-throughput sequencing