A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

[摘要] Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and failure to thrive which may present in the neonatal period. A handful of cases have been reported in the medical literature. We report a new case, diagnosed at the age of 6 years through whole exome sequencing, with atypical features including prominent metopic suture, cleft palate, unilateral renal agenesis and liver abnormalities, which broaden the phenotypic spectrum.

[学科分类] 基础医学

[关键词] Cobalamin F disorder;LMBRD1 mutation