case_images: PMC11361975_01
case_images: C-Peptide test, OGTT test, and imaging findings. (A) C-peptide concentration after glucose overload in 2020 and 2023 year. (B) Oral glucose tolerance test (OGTT) in 2020 and 2023. Abdominal CT image: (C) Right atrophied kidney (arrow). (D) Multiple small cysts in the left kidney (arrow). (E) Abnormal morphology of the pancreas with the atrophied tail part (arrow). (F) Enlargement of the left kidney. Contrast-enhanced CT scan: (G) Abnormal pancreas (arrow represents the pancreas body and atrophied tail). (H) Small cysts in the left kidney. Ultrasonographic view of the uterus. (I,J) Depression at the base of the uterine cavity with 0.6-cm uterine myometrial fundus projecting into the uterine cavity (2020 year). (K,L) Bowed uterus imaging result (2023 year).
case_images: fgene-15-1391804-g001.jpg
case_images: PMC11361975_01_fgene-15-1391804-g001.jpg
case_images: F1
case_images: The patient's computer tomography (CT) scan showed that absence of the right kidney, compensatory hypertrophy of the left kidney, multiple small cysts in the left kidney, pancreatic atrophy (Figures 1C-H); Gynecologic ultrasound suggests that bowed uterus (Figures 1I-L).
case_images: Genetic and chromosomal analyses. (A) Results of the CNV-Seq location of the missing fragment of the patient's chromosome. The pink area is the mitotic site, and the blue arrow points the location of the patient's missing gene fragment. (B) Results of CNV-Seq showed a 1.5-Mb deletion in the chr17: g.34825883_36276403 del region. (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system. (D) Family tree of the proband. Squares: males; circles: females. White: no T2DM; black: T2DM and MODY-5. (E) CNV-seq results of family member. I: the patient with 1.5 Mb deletion in the chr17: g.34825883_36276403 del region. II: CNV-seq showed that the patient's grandfather with 175 Kb deletion in the chr19: g.56217855_56392923del region. III-IV: no mutation in her mother and father.
case_images: fgene-15-1391804-g002.jpg
case_images: PMC11361975_01_fgene-15-1391804-g002.jpg
case_images: F2
case_images: A 1.5-Mb deletion with haploinsufficiency for 20 genes within the 17q12 region was found (Figures 2A, B). The patient's other family members including her father, mother, and grandfather also underwent genetic testing; despite mutations, no mutations associated with this disease have been identified (Figure 2E). The patient currently was employed as a kindergarten teacher and exhibited reasonably cooperative and polite behavior. We detected seq [GRCh37] del (q12) chr17: g3825883-36276403 del, with a size of 1.5 Mb, containing a total of 20 genes, namely, AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, MIR2909, MIR378J, MRM1, MYO19, PIGM, SNORA90, SYNRG, TADA2A, YWHAEP7, and ZNHIT3 (Figures 2A, B, E-I). We then performed second-generation gene sequencing on the patient's parents and grandfather, and the family members had no related gene mutations (Figure 2E-II, III, IV).