No/5.5yo; BMI Z+0.2 WTZ -1.21 HT Z -1.26 Yes/3.5yo; BMI Z+3.62 WT Z +2.18 HT Z -0.68 Yes/2.four yo; BMI Z+3.43 WT Z +2.7 HT Z-0.1 Yes, 9 of 10 BMI +2.5+/ – 0.9 WT +1.5+/- 1.2 HT -1.0+/- ND No No N/A Yes Yes N/A Elevated No Yes No Elevated Yes Yes Yes, @ 13 mo; DDAVP ND Yes Yes Yes, @ 19 mo; DDAVP Elevated No Yes Yes, @3 yo; not responsive to DDAVP 7 of 13 8 of 13 11 of 13 7 ofMart et al.ID #5aEthnicityHispanicIndianTurkishTurkishAfricanSexMMFMMOutcome; AgeAlive; 7.5 yoAlive; 6 yoAlive; 15 yoDead @8 mo; sepsis No Yes; #87a 3.7 1 wk Yes Not carried out Never treated w/ IV Nut Yes (1.5 to 11 mo) Yes/2 mo; WT Z-2.66 Yes/2 wk; WT Z-2.5 Yes/3 mo; WT Z -3.24 Yes (1 to 12 mo) Yes (three to 15 mo) Yes Yes Yes Yes two wk 1 wk 3.13 2.95 Yes, two; 1 died #113 Yes, two; 1 died #88 Yes YesAlive; three.7 yoConsanguinityYesYesYesYesNoFamily historyNoNoNoNoYes; #87bBirth Wt Kg3.three.3.three.three.Age presented3 wk1 wk1 wk1 wk1 wkGeneralize malabsoprtionYesYesYesYesYesIntest. Biopsy; NormalYesYesNo; mild villus atropyYesNo; villus atropy; eosChronic IV Nut (age get started; end) Yes/6 mo; WT Z-6.Yes (1 to 16 mo)Yes (three to 12 mo)Yes (10 to 34 mo)Yes (4 to 8 mo)Yes (1 to 20 mo)Early growth: FTT/age; WT Z scoreYes/2mo; WT Z -1.Yes/2mo; WT Z -2.Yes/10mo; WT Z -6.Yes/4 mo; WT Z -5.63 Yes/9.3 yo; BMI Z+2.33 WT Z+2.15 HT Z-0.21 Yes/12.8yo; BMI Z+2.six WT Z +2.five HT Z-0.6 Yes/2.9yo; BMI Z+2.55 WT Z+0.0 HT Z-2.Yes/1 wk; WT Z-1.Gastroenterology. Author manuscript; available in PMC 2014 July 01.Elevated Yes Yes Yes, @ 13.five mo; DDAVP Yes Yes, @ 1 mo; DDAVP No Elevated ElevatedLate development: Obese/age WT Z score HT Z scoreYes/7.7 yo; BMI Z+2.4 WT Z+1.81 HT Z-1.N/AYes/15yo; BMI Z +1.7 WT Z+1.0 HT Z-1.N/AYes/3.7yo; BMI Z+2.7 WT Z+1.4 HT Z-0.ProinsulinNDNDNDNDElevatedPostprandial hypoglycemiaYesYesYesNoYesPolydipsia PolyuriaYesYesYesNoYesDiabetes Insipidus confirmed; Age, treatedYes, @ 18 mo; DDAVPN/AYes, @3.5 yo; DDAVPN/AN/ANIH-PA Author ManuscriptPageNIH-PA Author ManuscriptNIH-PA Author ManuscriptID # Micropenis; hypospadias Yes, @6mo Yes, @1mo Yes, @ 3 mo N/A No Yes, @ 14 mo; hydrocortisone with strain No No Yes, 29 mo Yes, @ 17 yo No Yes, @ 14 yo Yes, @ 19 mo; hydrocortisone No eight of 13 No No No No No N/A Micropenis; delay puberty four of5a5b6a6bHypogonadismMicropenisN/AYes, delay pubertyN/ANoMart et al.1269440-73-4 In stock Hypoadrenalism confirmed; Age, treatedYes, @6.Formula of 165617-59-4 five yoN/AYes, @5.5 yoNoYes, @12moGH deficiency confirmed; Age, treated No Yes, @ 1 mo Yes, @ three wk Yes, @ 1 mo Yes, @ 4 moN/AN/AYes, @5.5 yoN/ANoNoYes, @9.5yoYes, @2.PMID:27108903 five yoN/ANoHypothyroid confirmed; Age, treatedYes, @6.five yoN/AYes, @5.5 yoNoNoGastroenterology. Author manuscript; offered in PMC 2014 July 01.N/A, not assessed; Yes, confirm symptom or test; No, does not have symptom, or the test was unfavorable; yo (years-of-age); mo (months-of-age).NIH-PA Author Manuscript11 Summary four of 13 eight ofNIH-PA Author ManuscriptPageNIH-PA Author ManuscriptTableMutations of PCSK1 by KindredNucleotide adjust coord dbsnp137 Exon Nucleotide Allele freq Protein solution Genotype KindredMart et al.Mutation NameMISSENSE: c.625GA c.772CA c.1269CA c.1643TC c.1777GA five:95730675 ?13 GGG-AGG@1777 ?Conserved residue five:95733119 ?12 TTT-TCT@1643 ?Conserved residue five:95735818 ?10 AAC- AAA @1269 ?Conserved residue Homozygous Homozygous Homozygous 5:95748132 ?7 CCT- ACT@772 ?Conserved residue Homozygous 5:95751821 ?six GGG – AGG @625 ?Conserved residue Homozygous #2 #2 #11 #9 #p.G209Rp.P258Tp.N423Kp.F548Sp.G593RNONSENSE: c.2TC c.693CG c.1009CT c.1213CT five:95735874 ?ten CGA-TGA@1213 ?5:95746564 ?eight CAA-TAA.
