2015
DOI: 10.1159/000441134
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A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Abstract: 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 broad… Show more

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Cited by 7 publications
(7 citation statements)
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“… 10 Classically, CblF deficiency is diagnosed with a high index of suspicion alongside urine organic acid and plasma analysis. 1 In our patient, WES was needed to establish the diagnosis because of the unusual presentation of unique diffuse dyschromia involving the palms and soles, diffuse finger and toenail hyperpigmentation, and graying of the scalp hairs, which were suggestive of reticulated and dyspigmentation genodermatosis, particularly dyskeratosis congenita, especially when one considers the accompanying microcephaly and hematologic features. However, the early onset of symptoms, lack of oral leukoplakia, and nail dystrophy combined with a marked improvement in response to cobalamin replacement therapy and confirmatory testing with WES, assisted in negating this differential diagnosis.…”
Section: Discussionmentioning
confidence: 91%
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“… 10 Classically, CblF deficiency is diagnosed with a high index of suspicion alongside urine organic acid and plasma analysis. 1 In our patient, WES was needed to establish the diagnosis because of the unusual presentation of unique diffuse dyschromia involving the palms and soles, diffuse finger and toenail hyperpigmentation, and graying of the scalp hairs, which were suggestive of reticulated and dyspigmentation genodermatosis, particularly dyskeratosis congenita, especially when one considers the accompanying microcephaly and hematologic features. However, the early onset of symptoms, lack of oral leukoplakia, and nail dystrophy combined with a marked improvement in response to cobalamin replacement therapy and confirmatory testing with WES, assisted in negating this differential diagnosis.…”
Section: Discussionmentioning
confidence: 91%
“…Cobalamin (vitamin B12) is a water-soluble vitamin that is obtained from animal sources. 1 It plays important roles in development, growth, and cellular differentiation. 3 Although deficiency of the vitamin is primarily an adult disease caused by gastrointestinal and malabsorptive disorders, it is now more frequently encountered in children who are born in strictly vegetarian households or who have a mutation in one of the genes associated with the vitamin's intrinsic pathways.…”
Section: Discussionmentioning
confidence: 99%
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“…The clinical phenotype is variable comprising small for gestational age, poor feeding, failure to thrive and developmental delay. Interestingly, 7 out of 15 children had CHD or laterality defects (Supplementary Table 1 ) [ 17 19 ]. In the present study, metabolic analysis of individual HET11_501 did not show any abnormalities.…”
Section: Resultsmentioning
confidence: 99%