Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature

Table 3 Insulin receptor mutations and clinical feature of Rabson-Mendenhall syndrome patients

Mutation type	Amin acid change	Clinical feature	Ref.
Missense	Pro193 Leu	Low birth weight, failure to thrive, hypotrichosis, clitoromegaly, and relatively coarse facies	Carrera et al[30]
Missense	Ile116Thr/Arg1131Trp	Early extreme hyperinsulinemia that declines over time; severe insulin resistance, growth retardation, acanthosis nigricans, dental anomalies, hyperglycemia and ketoacidosis risk	Longo et al[31]
Missense	Pro970Thr/Arg1131Trp	Hyperinsulinemia, growth retardation, acanthosis, dental anomalies, early-onset diabetes	Longo et al[32]
Missense	Asn878Ser/Ala1162Val	Severe insulin resistance with marked hyperinsulinemia, acanthosis, growth delay, dysmorphic dentition; refractory hyperglycemia requiring multi-drug and high-dose insulin therapy	Moreira et al[33]
Missense	Cys159Phe/Arg229Cys	Extreme insulin resistance, short stature, severe acanthosis, hypertrichosis, dental abnormalities, early-onset hyperglycemia	Thiel et al[34]
Missense	Arg209His/Gly359Ser	Markedly reduced receptor, extreme insulin resistance, short stature, severe acanthosis, hypertrichosis, dental anomalies, early diabetes, recurrent infections	Tuthill et al[35]
Missense	Arg86Term; Asp261-Leu262 Ins Leu His Val	Severe insulin resistance, hyperinsulinemia, growth retardation, acanthosis nigricans, dental dysplasia, early-onset diabetes	Müller-Wieland et al[36]
Missense/deletion	IVS4-2 A>G/c.2480-2487del	Profound insulin resistance, hyperinsulinemia, failure to thrive, acanthosis, dental and nail abnormalities, early-life diabetes	Kadowaki et al[37]
Missense	Cys279Arg	Child with RMS: Extensive acanthosis nigricans, skin tags, hypertrichosis, short stature, abdominal distension, clitoromegaly, hyperinsulinemia and hyperglycemia	Duraiswamy et al[38]
Missense/deletion	Arg145Cys/19p13.2del 237kbp	Adult RMS misdiagnosed as T1DM: Severe insulin resistance, malnutrition/Low BMI, acanthosis, prognathism, dysmorphic features, diabetic complications (retinopathy)	Almotawa et al[39]
Missense/deletion	Pro1131Arg/c.4007_4010delAGAG	Infant with generalized acanthosis, growth retardation, dysmorphism, hypertrichosis, fasting hypoglycemia with hyperinsulinemia	Yan et al[40]
Missense	Arg1119Trp/del243Kb(chr19:7150507-7152938)	Severe insulin resistance, hyperinsulinemia, growth retardation, acanthosis, dental anomalies, early diabetes	Chen et al[41]
Missense	Arg141Trp	Marked hyperinsulinemia, acanthosis, growth failure, dental/skin findings, insulin-resistant diabetes requiring complex therapy	Bastaki et al[42]

Pro: Proline; Leu: Leucine; Ile: Isoleucine; Thr: Threonine; Arg: Arginine; Trp: Tryptophan; Asn: Asparagine; Ser: Serine; Ala: Alanine; Val: Valine; Cys: Cysteine; Phe: Phenylalanine; His: Histidine; Term: Termination; Asp: Aspartic acid; Ins: Insertion; His: Histidine; RMS: Rabson-Mendenhall syndrome; T1DM: Type 1 diabetes mellitus; BMI: Body mass index.