The patient was a boy aged 11 years and 2 months, with chief complaints of blackened skin color on the neck over the past 10 years.
Case#: Patient_1, male, age 11 years and 2 months at presentation, ethnicity not reported
DiseaseAssertion: The patient is asserted by the authors to have SHORT syndrome due to a heterozygous frameshift variant in PIK3R1.
FamilyInfo: The patient was adopted. No family history, pedigree information, or parental testing is available.
CasePresentingHPOs: HP:0008212 (Acanthosis nigricans), HP:0000834 (Insulin resistance), HP:0000365 (Hearing impairment), HP:0000517 (Elevated intraocular pressure)
CaseHPOFreeText: The patient was diagnosed with insulin resistance (HOMA-IR: 14.5) and hyperinsulinemia despite normal glucose tolerance. Ophthalmological examination showed increased intraocular pressure without structural anomalies. Hearing impairment was mild and limited to the left ear. No evidence of short stature or typical craniofacial features.
CaseNotHPOs: HP:0004322 (Short stature), HP:0000572 (Deeply set eyes), HP:0009806 (Dental anomalies), HP:0002622 (Joint hypermobility)
CaseNotHPOFreeText: Features commonly associated with SHORT syndrome, including short stature, dental anomalies, joint hypermobility, and deeply set eyes, were not observed in this patient.
CasePreviousTesting: Whole exome sequencing was performed. Two additional INSR variants were identified and discussed in Supplementary Table S1: - NM_000208.3:c.*104A>G (rs1051690), a benign 3′ UTR variant (homozygous) - NM_000208.3:c.2666G>A (p.Arg889Gln) (rs187282966), a missense variant classified as of uncertain significance.
GenotypingMethod: Whole exome sequencing was used to identify the PIK3R1 frameshift variant. No family segregation analysis was performed.
PreviouslyPublished: No prior article is known to contain information on the same proband.
Variant: NM_181523.3:c.2008delT (p.Cys670ValfsTer3)
Zygosity: Heterozygous
InheritancePattern: NoInheritanceAssertion
MultipleGeneVariants
ClinicalStatus: Symptomatic
Endocrinopathy:Reported
ClinVar: Not found
CAID: CA2695204517
gnomAD: Not reported in gnomAD
SupplementalData: Yes, additional variants identified by WES are listed in Supplementary Table S1.
Ab Deficiencies VCEP