PMC9852905_01
The results of Sanger sequencing and family pedigree. (A) The Sanger sequencing showed a novel mutation c. 1T>C (p.M1V) in the INS gene. (B) The family pedigree. The proband's parents and grandfathers are all heterozygous mutations at the locus, but none of them shows decreased glucose tolerance. (C) The transcript of INS gene.
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The results of Sanger sequencing ( Figure 1A ) showed that a novel homozygous mutation c.1T>C (p.M1V) was found in the INS gene of the proband. The family pedigree verification analysis showed that his parents and grandfathers were all heterozygous carriers of the same mutation ( Figures 1A, B ), which supported the evidence (PM2 + PM3). Referring to the amino acid sequence in the transcript ( Figure 1C ), the site where the mutation is located is the initiation codon (M1), and the fourth amino acid downstream of the initiation codon may be the potential initiation codon (M2).
PMC9852905_02
The follow-up data of the patient. (A) The hemoglobin Alc (HbA1c) levels of the patient at different time point. (B) Growth and development of the patient. H: the height of the patient; W: the weight of the patient; HC: the head circumference of the patient. (C) W/H: the weight-for-height of the patient.
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The HbA1c level has been stable for 10 years ( Figure 2A ).
PMC9852905_03