Table 3.

Clinical information and laboratory results for patient samples sequenced in this study.

Patient	Age	Ethnicity	Gender	Clinical and other findings
1	Fetus	Asian	NA	Reported advanced maternal age. A SNP array detected a 63 kb deletion involving deletion of exons 3–11 of the INSR gene: 19p13.2(7,143,507-7,206,857)x1; GRCh37/hg 19 sequencing of the coding exons ruled out second mutation
2	11 weeks	African-American	M	Possible IUGR, dysmorphic features, distended abdomen, can fast for only 4–5 h after which the glucose levels drop to 40 s, insulin 1 μU/mL (refa 3–19), renal tubular acidosis type 4, only one kidney, bilateral club feet, congenital hydrocephalus not requiring shunt; c.2971C > A, p.Leu991Ile
3	1 yr	b	F	IUGR, low glucose fasting (35–67 mg/dL), seizures; previous testing found “regions of homozygosity” in INSR region by SNP array
4	5 yr	Multi-ethnicity	M	Delivered at 27 weeks and has complications of prematurity, holoprosencephaly, absence of corpus; loss of white matter on both occipital lobes, FTT, insulin 379.6 μU/mL (ref 3–17)
5	11 yr	c	F	Hypertriglyceridemia, low HDL cholesterol, high LDL cholesterol, nonalcoholic steatohepatitis, acanthosis nigricans, glucose fasting normal, insulin 70.5 μU/mL (ref 3–12)
6	15 yr	NA	M	Extreme insulin resistance type A
7	15 yr	African-American	F	Acanthosis nigricans, amenorrhea, insulin 21 μU/mL (ref 3–19)
8	16 yr	African-American	M	IUGR, FTT, dysmorphic features, lack of subcutaneous fat, poor response to exogenous insulin or hyperforin
9	21 yr	African-American	F	Acanthosis nigricans, cystic ovaries, insulin 65.8 μU/mL (ref 2.6–24.9), severe insulin resistance, cystic ovaries. Medications: Trajenta, metformin, Depo–Provera therapy
10	28 yr	Caucasian	F	Cystic ovaries, glucose fasting 89 mg/dL, hx of heavy irregular periods, mental health symptoms, cystic ovaries
11	29 yr	Asian Indian	F	Amenorrhea, cystic ovaries
12	30 yr	Caucasian	F	Cystic ovaries
13	50 yr	NA	F	Glucose fasting, 277 mg/dL (ref 70–99) unknown if fasting, insulin antibody 1.9 U/mL(< 0.4), triglyceride 1302 mg/dL (ref 40–149); cholesterol 231 mg/dL (ref 120–199)
14	66 yr	Caucasian	F	Aggression, hyper-androgenism, gingival hyperplasia, thick skin, amenorrhea, distended abdomen, reported high fasting glucose fasting, high postprandial glucose 1501 mg/dL (ref < 180 mg/dL)

^aWithin normal reference range.

^bPatient from Haiti, ethnicity unknown.

^cPatient from Puerto Rico.