TY - JOUR
T1 - Phenotypic variability of C.436delC DCAF17 gene mutation in woodhouse-Sakati syndrome
AU - Almeqdadi, Mohammad
AU - Kemppainen, Jennifer L.
AU - Pichurin, Pavel N.
AU - Gavrilova, Ralitza H.
N1 - Publisher Copyright:
© Am J Case Rep.
PY - 2018/3/25
Y1 - 2018/3/25
N2 - Objective: Rare disease Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism starting in early adolescence. Clinical presentation is variable, and a subset of patients may have additional features, such as premature aging, alopecia, distinctive facial features, cognitive impairment, or deafness. Case Report: We illustrate the phenotypic variability of 5 patients with WSS due to the previously reported homozygous single nucleotide deletion c.436delC in the DCAF17 gene, identified in 2008. Despite identical genetic alteration, our 5 patients had various clinical features among them and compared with previously reported cases with the same pathogenic mutation. Conclusions: The phenotypic variability of WSS due to c.436delC founder mutation may have a wider range than previously recognized.
AB - Objective: Rare disease Background: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism starting in early adolescence. Clinical presentation is variable, and a subset of patients may have additional features, such as premature aging, alopecia, distinctive facial features, cognitive impairment, or deafness. Case Report: We illustrate the phenotypic variability of 5 patients with WSS due to the previously reported homozygous single nucleotide deletion c.436delC in the DCAF17 gene, identified in 2008. Despite identical genetic alteration, our 5 patients had various clinical features among them and compared with previously reported cases with the same pathogenic mutation. Conclusions: The phenotypic variability of WSS due to c.436delC founder mutation may have a wider range than previously recognized.
KW - Alopecia
KW - Dystonic disorders
KW - Hypogonadism
KW - Leukoencephalopathies
UR - http://www.scopus.com/inward/record.url?scp=85044782719&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85044782719&partnerID=8YFLogxK
U2 - 10.12659/AJCR.907395
DO - 10.12659/AJCR.907395
M3 - Article
C2 - 29574468
AN - SCOPUS:85044782719
SN - 1941-5923
VL - 19
SP - 347
EP - 353
JO - American Journal of Case Reports
JF - American Journal of Case Reports
ER -