Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Hong Linliang, Liu Jing, Wu Bin
Аннотация
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.
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.