Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome.@*METHODS@#Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father.@*CONCLUSION@#The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.