Table 1

Clinical characteristics of patients with biallelic PCBD1 mutations

Patient No.
ECRC 7, 
Family 1, III-2BIODEF§ 319, Family 2, II-1BIODEF 344, Family 3, II-2BIODEF 273, Family 3, II-1BIODEF 272, Family 4, II-1BIODEF 329, 
Family 5BIODEF 701, Family 6BIODEF 620, Family 7
SexFemaleFemaleFemaleMaleMaleMaleFemaleFemale
Present age, years20172120201814
EthnicityTurkishCaucasianAshkenazi JewishAshkenazi JewishCaucasianTurkishCaucasianCaucasian
ConsanguinityYesNoNoNoNoYesNoNo
Nucleotide aberration^c.[(46del)]; [(46del)]c.[(289G>A)]; [(292C>T)]c.[(259G>T)]; [(259G>T)]c.[(259G>T)]; [(259G>T)]c.[(292C>T)]; [(292C>T)]c.[(79G>T;263G>A)]; [(79G>T;263G>A)]c.[(292C>T)]; [(292C>T)]c.[(292C>T)]; [(213_215del)]
Protein alterationp.[(Leu16Cysfs*5)]; [(Leu16Cysfs*5)]p.[(Glu97Lys)]; [(Gln98*)]p.[(Glu87*)]; [(Glu87*)]p.[(Glu87*)]; [(Glu87*)]p.[(Gln98*)]; [(Gln98*)]p.[(Glu27*;Asp88Gln)]; [(Glu27*;Asp88Gln)]p.[(Gln98*)]; [(Gln98*)]p.[(Asn71del)]; [(Gln98*)]
Variation identificationNovel(CM981485); rs121913015 (CM981486)rs104894172 (CM930575)rs104894172 (CM930575)rs121913015 (CM981486)CM981482; rs115117837 (CM981484)rs121913015 (CM981486)rs121913015 (CM981486); Novel
DiabetesYesYesYesNoYesNoNoNo
 Onset, years14151218
 SymptomsGlucosuria, polyuriaPolyuria, polydipsiaGlucosuriaPolyuria, polydipsia
 IBGL, mg/dL2752702624146989
 Initial BMI, (z-score)23.4 (+2.1)20.2 (+0.4)21.3 (+1.4)20.1 (−0.4)26.3 (+0.9)16.5 (+0.1)17.3 (+1.1)
 Initial HbA1c, % (mmol/mol)7.8 (62)6.5 (48)<6.1 (43)14.6 (136)4.9 (30)4.3 (23)4.9 (30)
 β-Cell autoantibodiesNegativeNegativeNegativeN.D.NegativeN.D.N.D.N.D.
 Pancreas morphologyNormalN.D.N.D.N.D.NormalNormalN.D.N.D.
 TreatmentInsulin, meglitinideInsulin, sulfonylureaInsulin, sulfonylurea, lifestyleInsulin, sulfonylurea
 Family historyFather, mother, and maternal grandmother T2DBoth parents healthyMother healthy, father T2D, obesityMother healthy, father T2D, obesityBoth parents healthy, maternal grandparents T2DBoth parents healthyBoth parents healthy, maternal grandfather T2DBoth parents healthy
HPA statusNoYesNoYesYesYesYesYes
ReferenceUnpublished10, 12111111, 1210, 12UnpublishedUnpublished
  • ECRC, Experimental and Clinical Research Center; HPA, hyperphenylalaninemia during neonatal period; IBGL, initial blood glucose levels; N.D., not done.

  • ^Positions refer to Consensus CDS database accession number 31217.1. RefSeq number for human PCBD1 mRNA is NM_000281.2.

  • †dbSNP and/or Human Gene Mutation Database (in brackets) database accession numbers.

  • ‡Determined by abdominal ultrasound.

  • §BIODEF database.