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Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Authors :
Lin, Siying
Robson, Anthony G.
Thompson, Dorothy A.
Stepien, Karolina M.
Lachmann, Robin
Footitt, Emma
Czyz, Ola
Chandrasekhar, Shwetha
Schiff, Elena
Iosifidis, Christos
Black, Graeme C.
Michaelides, Michel
Mahroo, Omar A.
Arno, Gavin
Webster, Andrew R.
Source :
Clinical Genetics. Oct2024, Vol. 106 Issue 4, p505-511. 7p.
Publication Year :
2024

Abstract

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non‐syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726‐1G>C and p.(Tyr289Cys). Electroretinography indicated a rod‐cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra‐ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non‐null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00099163
Volume :
106
Issue :
4
Database :
Academic Search Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
179392677
Full Text :
https://doi.org/10.1111/cge.14573