Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature

Table 1 Genetic and clinical characteristics of Alström syndrome patients with hyperthyroidism

	Current case	Ozgül et al[45] cases
Year of publication	2020	2007
Race	Chinese	Turkish
Number of patients (sex)	1 (female)	3 (females)
Genetics
Inheritance pattern	Compound heterozygous	Homozygote
Location	Exons 8 and 16	Exon 10
cDNA change	c.2296_2299del4, c.11460C > A	c.8164C > T
Protein change	p.S766Kfs*13, p.Y3820*	p.R2722X
Function prediction	Stop-gain mutation	Stop-gain mutation
Clinical manifestations
Retinal malnutrition (100%)	+	+
SNHL (89%)	+	+
Infant cardiomyopathy (40%)	+
Endocrine-related findings
Short stature (50%)		+
Hypothyroidism (11%-36%)		+
Hyperthyroidism	+ (TRAb elevation)	+ (TRAb reduction)
Metabolism-related findings
Childhood obesity	+	+
Insulin resistance (100%)	+	+
Type 2 diabetes (82%)	+	+
Dyslipidemia (High TG level and low HDL level)	+	+
Urinary system (14%)
Chronic kidney disease	+
Renal failure		+
Non-alcoholic steatohepatitis	+
Restrictive lung ventilation	+	+
Epilepsy, reflection delay (20%)		+
Spinal deformity (68%)	+
Androgen excess in women	+	+

AS: Alström syndrome; cDNA: complementary DNA; SNHL: Sensorineural hearing loss; TG: Triglyceride; HDL: High-density lipoprotein; TRAb: Thyrotropin receptor antibody.