Activity
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| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 6 families with diabetes mellitus and biallelic variants at the Arg371 or Arg374 residue of this gene (PMID: 36704923; 36136088; 40062579) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.5 | FICD | Arina Puzriakova Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.4 | FICD | Arina Puzriakova Tag recurrent-variant tag was added to gene: FICD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.4 | FICD |
Arina Puzriakova gene: FICD was added gene: FICD was added to Monogenic diabetes. Sources: Literature Q3_25_promote_green tags were added to gene: FICD. Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36704923; 36136088; 40062579 Phenotypes for gene: FICD were set to Spastic paraplegia 92, autosomal recessive, OMIM:620911; diabetes mellitus, MONDO:0005015; Neonatal insulin-dependent diabetes mellitus, HP:0000857 Review for gene: FICD was set to GREEN Added comment: - PMID: 36704923 (2022) - infantile diabetes and neurodevelopmental delay associated with a single variant p.Arg371Ser, in three consanguineous families, two of which shared a common haplotype - PMID: 36136088 (2022) - four unrelated families from different ethnic backgrounds, all harboured the same p.Arg374His variant, which was homozygous in all but one case where the variant was present in a compound heterozygous state with a frameshift variant, p.Gly370GlufsTer53. Haplotype analysis did indicate that there is a shared haplotype in all patients with the p.Arg374His variant, strongly suggesting a founder effect. Affected individuals presented with severe motor neuron disease and one patient from this cohort also had diabetes mellitus. - PMID: 40062579 (2025) - an additional four individuals from two families with variants affecting the Arg374 residue, who presented with complicated HSP and diabetes mellitus, merging these two previously distinct presentations. The report describes one Serbian family, comprising 2 sibs with cHSP (age of onset: 5 and 6) and diabetes mellitus (age of diagnosis: 25 and 27). The sibs had the recurrent homozygous variant p.Arg374His - however, the haplotype identified in the previous report was not found in this family, suggesting that this is an independent event. The second was a consanguineous family from Saudi Arabia with 2 sibs affected by progressive HSP and diabetes (one prediabetic) - age of onset unclear but paediatric. This family harboured a novel homozygous variant, p.Arg374Cys. No cognitive deficits were reported in either family. The coexistence of motor neuron disease and diabetes suggests a broader range of neurological and metabolic effects of FICD dysfunction which does warrant further investigation. It is possible that these presentations may be more related than initially thought - individuals diagnosed with infancy-onset diabetes mellitus may develop spasticity later in life, and vice versa. Sources: Literature |
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