Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature

Table 2 Summary of clinical phenotypic characteristics of familial partial lipodystrophy disease caused by PPARG mutation[11,16,24,26,34-39,42,50-62]

Domain	Gene mutation type	Manifestation				Ref.
		Diabetes/insulin resistance	Hypertrigly-ceridemia	Hyper-tension	Others
LBD	H449L	Yes	Yes		PCOS, acanthosis nigricans, hepatocyte steatosis, no coronary arteries and other vascular diseases	Demir et al[34]
	P467L	Yes	Yes	Yes	Cirrhosis and liver cancer develop in the context of non-alcoholic steatohepatitis	Savage et al[24]; Barroso et al[35]
	V290M	Yes	Yes	Yes	Primary amenorrhea, hypertrichosis, acanthosis nigricans	Savage et al[24]; Barroso et al[35]
	F310S	Yes	Yes		Fatty liver, liver dysfunction, albuminuria and diabetic peripheral neuropathy	Chen et al[36]
	F162C	Yes	Yes		Hepatomegaly, metabolic steatohepatitis	Melzer et al[38]
	R425C	Yes	Yes		Lipodystrophy of the extremities and face, hirsutism	Agarwal and Garg[39]
	Q157G	Yes	Yes	Yes	Polycystic ovarian syndrome, premature menopause at the age of 38, underwent hysterectomy due to fibroids at the age of 54, osteoporosis at the age of 58	Lambadiari et al[42]
	A261E	Yes	Yes		PCOS, lipodystrophy of the extremities	Agostini et al[16]
	R308P	Yes	Yes		PCOS, Nonalcoholic fatty liver disease	Agostini et al[16]; Majithia et al[50]
	K347T	Yes	Yes	Yes	Lipoatrophy of the limbs, elevated creatine kinase levels, recurrent pancreatitis	Miehle et al[51]
	E352Q	Yes	Yes		Low level of plasma leptin, hepatic steatosis, whereas funduscopy was normal	Castell et al[52]
	Y355X	Yes	Yes	Yes	Steatosis hepatis, Family history of similar physical appearance, acute pancreatitis	Francis et al[53]
	T356R	Yes	Yes		Non-alcoholic fatty liver, dyslipidemia, and low serum adiponectin levels	Majithia et al[50]
	R385X	Yes	Yes	Yes	Acanthosis nigricans, lipodystrophy affecting gluteal, pancreatitis, cutaneous eruptive xanthomata	Agostini et al[54]
	P387S	Yes	Yes		Severe insulin resistance, non-alcoholic fatty liver, dyslipidemia, and low serum adiponectin levels	Majithia et al[50]
	F388L	Yes	Yes		Polycystic ovarian disease, atrophy of gluteal fat	Hegele et al[11]
	A417V	Yes	Yes		Severe insulin resistance, non-alcoholic fatty liver, dyslipidemia, and low serum adiponectin levels	Majithia et al[50]
	D424N		Yes	Yes	Muscular hypertrophy was observed on the legs, slight acanthosis nigricans was present on the neck, axillae and inguinal folds, loss of subcutaneous fat from the arms, accumulation of subcutaneous fat was present in face, chin, trunk and abdomen, ovarian cyst	Lüdtke et al[55]
	L451P	Yes	Yes		Hirsutism, marked loss of subcutaneous fat from the extremities but truncal fat was slightly increased	Broekema et al[56]
	H477L	Yes	Yes		Trunk-sparing lipodystrophy, acanthosis nigricans, multiple acrochordons, an excess of subcutaneous adipose tissue in the abdomen with a decreased amount of subcutaneous adipose tissue in the patient’s lower extremities	Akinci et al[57]
	P495L	Yes	Yes		Severe insulin resistance, non-alcoholic fatty liver, dyslipidemia, and low serum adiponectin levels	Barroso et al[35]
DBD	Y151C	Yes	Yes	Yes	Pancreatitis, cardiovascular disease, no acanthosis nigricans or hirsutism	Visser et al[37]
	FS138X	Yes			Bilateral cataracts, bilateral hearing impairment and peripheral neuropathy	Hegele et al[58]
	C114R	Yes	Yes	Yes	PCOS, hepatic steatosis	Agostini et al[54]
	E157D	Yes	Yes		Hepatic steatosis, acanthosis nigricans, hirsutism, PCOS	Campeau et al[59]
	C131Y	Yes	Yes	Yes	PCOS, hepatic steatosis	Agostini et al[54]
	G161V	Yes	Yes	Yes	Bilateral fallopian tube obstruction, eruptive xanthoma, type V dyslipidemia, pancreatitis, severe hepatic steatosis	Lau et al[26]
	R165T	Yes	Yes	Yes	Peripheral lipoatrophy, muscular hypertrophy, liver steatosis	Auclair et al[60]
	FS186X	Yes	Yes	Yes	Acanthosis nigricans	Savage et al[61]
	C162W	Yes	Yes	Yes	PCOS, hepatic steatosis	Agostini et al[54]
	R194W	Yes	Yes	Yes	PCOS, acanthosis nigricans	Monajemi et al[62]

LBD: Ligand-binding domain; DBD: DNA binding domain; PCOS: Polycystic ovarian syndrome.