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Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
Author(s) -
Liang Hanting,
Miao Hui,
Yang Hongbo,
Gong Fengying,
Chen Shi,
Wang Linjie,
Zhu Huijuan,
Pan Hui
Publication year - 2020
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/nyas.14229
Subject(s) - compound heterozygosity , dwarfism , genetics , mutation , heterozygote advantage , medicine , biology , genotype , gene
Troyer syndrome is an autosomal recessive disease characterized by spastic paralysis, dysarthria, distal amyotrophy, and short stature. Recently, two siblings (an older brother and a younger sister) were admitted to our hospital for the chief complaints of “short stature and intellectual disability.” Through whole exome sequencing of the sister, who is the proband, it was found that her SPG20 gene had compound heterozygous mutations: c.364_365delAT (p.Met122Valfs * 2) and c.892delA (p.Thr298Glnfs * 30). Target testing revealed that the brother had the same genotype as the sister, and the former mutation originated from the father, while the latter mutation originated from the mother. In summary, this is the first report of Troyer syndrome in a family caused by SPG20 compound heterozygous mutations. A novel SPG20 mutation was found, namely c.892delA (p.Thr298Glnfs * 30). In addition, we also summarize these Troyer syndrome patients’ heights and their clinical characteristics, and provide a brief review of all known pathogenic mutations of SPG20 .